A novel mutation in the matrix metallopeptidase 2 coding gene associated with intrafamilial variability of multicentric osteolysis, nodulosis, and arthropathy
ConclusionsBoth the age at the onset and the phenotypic severity of the syndrome in these two brothers were different despite identical genotypes. The younger patients had corneal opacities leading to deteriorating visual acuity. For the first time in this disease, opacities were successfully treated with corneal transplantations. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 3, 2019 Category: Genetics & Stem Cells Authors: Liisa Kr öger, Tuija Löppönen, Leena Ala‐Kokko, Heikki Kröger, Hanna‐Mari Jauhonen, Kaisa Lehti, Jarmo Jääskeläinen Tags: CLINICAL REPORT Source Type: research

EIF4G1 is a novel candidate gene associated with severe asthenozoospermia
ConclusionOur experimental findings indicate that the EIF4G1 gene is a novel candidate gene that may be relevant to severe AZS. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 3, 2019 Category: Genetics & Stem Cells Authors: Yanwei Sha, Wensheng Liu, Xianjing Huang, Yang Li, Zhiyong Ji, Libin Mei, Shaobin Lin, Shuangbo Kong, Jinhua Lu, Lingyuan Kong, Xingshen Zhu, Zhongxian Lu, Lu Ding Tags: ORIGINAL ARTICLE Source Type: research

Haplotype analysis of SERPINE1 gene: Risk for aneurysmal subarachnoid hemorrhage and clinical outcomes
The SERPINE1 gene that encoded PAI ‐1 to regulate circulating tPA level influenced the outcome of Aneurysmal Subarachnoid Hemorrhage. The haplotypes of SERPINE1 gene polymorphism are associated with delayed cerebral ischemia and clinical vasospasm. AbstractBackgroundAneurysmal subarachnoid hemorrhage (aSAH) has high fatality and permanent disability rates due to the severe damage to brain cells and inflammation. TheSERPINE1 gene that encodes PAI ‐1 for the regulation of tissue plasminogen activator is considered an important therapeutic target for aSAH.MethodsSix SNPs in theSERPINE1 gene (in order of rs2227631, rs17998...
Source: Molecular Genetics & Genomic Medicine - July 3, 2019 Category: Genetics & Stem Cells Authors: Mingkuan Lin, Christoph J. Griessenauer, Robert M. Starke, R. Shane Tubbs, Mohammadali M. Shoja, Paul M. Foreman, Nilesh A. Vyas, Beverly C. Walters, Mark R. Harrigan, Philipp Hendrix, Winfield S. Fisher, Jean ‐Francois Pittet, Mali Mathru, Tags: ORIGINAL ARTICLE Source Type: research

TERT gene polymorphisms are associated with chronic obstructive pulmonary disease risk in the Chinese Li population
ConclusionOur data shed new light on the association betweenTERT SNPs and COPD susceptibility in the Chinese Li population. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 3, 2019 Category: Genetics & Stem Cells Authors: Yipeng Ding, Quanni Li, Cibing Wu, Wei Wang, Jie Zhao, Qiong Feng, Xiaoman Zhou, Yufei Xie, Mei Lin, Ping He, Pingdong Xie Tags: ORIGINAL ARTICLE Source Type: research

A novel de novo CASZ1 heterozygous frameshift variant causes dilated cardiomyopathy and left ventricular noncompaction cardiomyopathy
ConclusionWe have identified a novelCASZ1 variant in a patient with combined DCM and LVNC for the first time, thus broadening the phenotypic spectrum ofCASZ1 variants. Furthermore, this study emphasized the usefulness of whole ‐exome sequencing for genetic diagnosis of cardiomyopathy. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 3, 2019 Category: Genetics & Stem Cells Authors: Jun Guo, Zheng Li, Chanjuan Hao, Ruolan Guo, Xuyun Hu, Suyun Qian, Jiansheng Zeng, Hengmiao Gao, Wei Li Tags: CLINICAL REPORT Source Type: research

Splicing dysregulation contributes to the pathogenicity of several F9 exonic point variants
ConclusionSynonymous variants primarily cause disease phenotype via splicing dysregulation while additional mechanisms such as translation rate also play an important role. Splicing dysregulation is likely to contribute to the disease phenotype of several non ‐synonymous variants. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 30, 2019 Category: Genetics & Stem Cells Authors: Upendra K. Katneni, Aaron Liss, David Holcomb, Nobuko H. Katagiri, Ryan Hunt, Haim Bar, Amra Ismail, Anton A. Komar, Chava Kimchi ‐Sarfaty Tags: ORIGINAL ARTICLE Source Type: research

Identification of rare copy number variations reveals PJA2, APCS, SYNPO, and TAC1 as novel candidate genes in Autism Spectrum Disorders
ConclusionOur study broadens the population spectrum of studied ASD patients and adds new candidates at the list of genes contributing to these disorders. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 29, 2019 Category: Genetics & Stem Cells Authors: Tania Bitar, Walid Hleihel, Sylviane Marouillat, Sandrine Vonwill, Marie ‐Laure Vuillaume, Michel Soufia, Patrick Vourc'h, Frederic Laumonnier, Christian R. Andres Tags: ORIGINAL ARTICLE Source Type: research

Genetics and genetic counseling in psychiatry: Results from an opinion survey of professionals and users
ConclusionsThe present study showed that mental health professionals were more aware of the genetic basis of psychiatric disorders than users, and both considered the implementation of a genetic counseling service very useful. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 29, 2019 Category: Genetics & Stem Cells Authors: Lourdes Martorell, Annabel Sanfeliu, Ana Bl ázquez, Elia Lojo, Maria José Cortés, Joan de Pablo, Elisabet Vilella Tags: ORIGINAL ARTICLE Source Type: research

Menkes disease complicated by concurrent Koolen ‐de Vries syndrome (17q21.31 deletion)
ConclusionMenkes disease and KdV syndrome may both present with hypotonia and abnormal hair, in addition to seizures and failure to thrive. While these genetic conditions have overlapping clinical features, they have different natural histories and different therapeutic options. Here, we report on a patient affected with both disorders and review the diagnostic and therapeutic difficulties this presented. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 28, 2019 Category: Genetics & Stem Cells Authors: Taylor Woodfin, Christine Stoops, Joseph B. Philips, Edward Lose, Fady M. Mikhail, Anna Hurst Tags: CLINICAL REPORT Source Type: research

Identification of novel variants in MYO15A, OTOF, and RDX with hearing loss by next ‐generation sequencing
ConclusionFive novel variants were found in three families with NSHL. Our findings extend the mutational spectrum in deafness ‐related genes and will help physicians in better understanding the etiology of hearing loss. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 28, 2019 Category: Genetics & Stem Cells Authors: Xuejing Bai, Shiyan Nian, Lei Feng, Qingrong Ruan, Xuan Luo, Mengna Wu, Zefeng Yan Tags: ORIGINAL ARTICLE Source Type: research

Association of genetic polymorphism of PC ‐1 gene (rs1044498 Lys121Gln) with insulin‐resistant type 2 diabetes mellitus in Punjabi Population of Pakistan
The objective of the present study was to investigate the genetic association ofPC ‐1 rs1044498 polymorphism with insulin resistance in type 2 diabetes in the Punjabi population of Pakistan.MethodsThisstudy was carried out on 161 healthy controls and 161 patients of T2DM with insulin resistance. Whole blood was collected for DNA extraction and molecular studies. PCR ‐RFLP withAvaII was performed to determine the genotype in cases and controls. Chi ‐square and Hardy Weinberg analyses were carried out. Statistical analysis was performed by SPSS software.ResultsThe demographic data of cases and controls showed significa...
Source: Molecular Genetics & Genomic Medicine - June 28, 2019 Category: Genetics & Stem Cells Authors: Abdullah Abdo Albegali, Muhammad Shahzad, Muhammad Ikram Ullah, Saqib Mahmood, Maryam Rashid Tags: ORIGINAL ARTICLE Source Type: research

Functional characterization of a SNP (F51S) found in human alpha 1 ‐antitrypsin
ConclusionThe results of this study indicate that Phe51 and the surrounding hydrophobic residue cluster plays an important role in the conformation and secretion of A1AT and suggest the harmful effects of a rare F51S SNP in human health. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 28, 2019 Category: Genetics & Stem Cells Authors: Hong ‐Nhung Trinh, Sei‐Heon Jang, ChangWoo Lee Tags: ORIGINAL ARTICLE Source Type: research

Identification of a novel splice site mutation in the SERAC1 gene responsible for the MEGDHEL syndrome
ConclusionWe showed that the loss of the putative transmembrane domain of SERAC1, due to a novel splice site variant, impairs the protein expression and is responsible for the MEGDHEL syndrome. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 28, 2019 Category: Genetics & Stem Cells Authors: Sarah Snanoudj, Patrick Mordel, Quentin Dupas, C écile Schanen, Alina Arion, Marion Gérard, Marie‐Hélène Read, Djamel Nait Rabah, Didier Goux, Françoise Chapon, Mickael Jokic, Stéphane Allouche Tags: CLINICAL REPORT Source Type: research

Primary congenital glaucoma due to paternal uniparental isodisomy of chromosome 2 and CYP1B1 deletion
ConclusionsThis study is the first report of a homozygousCYP1B1 whole gene deletion due to paternal uniparental isodisomy of chromosome 2 as a cause of PCG. These results illustrate the importance of genetic testing in providing appropriate genetic counseling regarding the risks of recurrence. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 28, 2019 Category: Genetics & Stem Cells Authors: Emmanuelle Souzeau, Andrew Dubowsky, Jonathan B. Ruddle, Jamie E. Craig Tags: CLINICAL REPORT Source Type: research

miR ‐33a inhibits cell growth in renal cancer by downregulation of MDM4 expression
ConclusionTaken together, our study indicates thatmiR ‐33a inhibits RCC cell growth by targetingMDM4. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 28, 2019 Category: Genetics & Stem Cells Authors: Kehua Jiang, Fa Sun, Jianguo Zhu, Guangheng Luo, Yong Ban, Peng Zhang Tags: ORIGINAL ARTICLE Source Type: research

Sleep apnea and the impact on cardiovascular risk in patients with Marfan syndrome
ConclusionsOur study shows a high prevalence of OSA and a high prevalence of overweight in MFS patients. We found some trends between OSA and cardiovascular features but we could not establish a solid association. Our study, however might be underpowered, and a multicenter collaborative study could be very useful to answer some important open questions. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 27, 2019 Category: Genetics & Stem Cells Authors: Laura Mui ño‐Mosquera, Fré Bauters, Karlien Dhondt, Hans De Wilde, Luc Jordaens, Katya De Groote, Daniel De Wolf, Katrien Hertegonne, Julie De Backer Tags: ORIGINAL ARTICLE Source Type: research

Identification of 99% of CFTR gene mutations in Bulgarian ‐, Bulgarian Turk‐, and Roma cystic fibrosis patients
ConclusionThis collaborative study improves genetic counselling in BG, facilitates introduction of multitier CF neonatal screening and fosters public health measures for improvement of care in the Roma CF population. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 27, 2019 Category: Genetics & Stem Cells Authors: Guergana Petrova, Nadezhda Yaneva, Jana Hrbkov á, Malgorzata Libik, Alexey Savov, Milan Macek Tags: ORIGINAL ARTICLE Source Type: research

The role of FOXO3 polymorphisms in susceptibility to tuberculosis in a Chinese population
ConclusionsOur study showed that rs3800229 and rs4946935 inFOXO3 were associated with a risk of TB in the Chinese population. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 26, 2019 Category: Genetics & Stem Cells Authors: Bo Wang, Yuhe Wang, Li Wang, Xue He, Yongjun He, Mei Bai, Linhao Zhu, Jianwen Zheng, Dongya Yuan, Tianbo Jin Tags: ORIGINAL ARTICLE Source Type: research

Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR ‐DSCR) on human chromosome 21
ConclusionsThe findings presented here further support the association of the HR ‐DSCR with the diagnosis of DS, representing an unbiased validation of the original model. Further studies are needed to identify and characterize genetic determinants presumably located in the HR‐DSCR and functionally associated to the critical manifestations of DS. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 25, 2019 Category: Genetics & Stem Cells Authors: Maria Chiara Pelleri, Elena Cicchini, Michael B. Petersen, Lisbeth Tranebj ærg, Teresa Mattina, Pamela Magini, Francesca Antonaros, Maria Caracausi, Lorenza Vitale, Chiara Locatelli, Marco Seri, Pierluigi Strippoli, Allison Piovesan, Guido C Tags: ORIGINAL ARTICLE Source Type: research

A case of de novo splice site variant in SLC35A2 showing developmental delays, spastic paraplegia, and delayed myelination
ConclusionThis case would expand the phenotypic spectrum ofSLC35A2‐related disorders to delayed myelination with spasticity and no seizures. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 23, 2019 Category: Genetics & Stem Cells Authors: Sachiko Miyamoto, Mitsuko Nakashima, Tsukasa Ohashi, Takuya Hiraide, Kenji Kurosawa, Toshiyuki Yamamoto, Junichi Takanashi, Hitoshi Osaka, Ken Inoue, Takehiro Miyazaki, Yoshinao Wada, Nobuhiko Okamoto, Hirotomo Saitsu Tags: CLINICAL REPORT Source Type: research

Analysis of MIR155HG variants and colorectal cancer susceptibility in Han Chinese population
ConclusionThis study revealed thatMIR155HG SNPs were associated with CRC susceptibility and could be predictive biomarkers for CRC risk. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 22, 2019 Category: Genetics & Stem Cells Authors: Huangfu Wu, Guisheng He, Hua Han, Wei Xiong, Tao Song, Huamin Chen, Xiuxiu Chen, Xiaoming Wu, Guangyue Huang, Yazhen Zhang, Chuanwei Sun, Chaoyang Zhao, Yunjing Chen Tags: ORIGINAL ARTICLE Source Type: research

Association between IL1B gene and cervical cancer susceptibility in Chinese Uygur Population: A Case –Control study
ConclusionsFor the first time, our results provide evidence on polymorphism ofIL ‐1B gene associated with cervical cancer risk in Chinese Uygur population. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 20, 2019 Category: Genetics & Stem Cells Authors: Li Wang, Wenhui Zhao, Jiajing Hong, Fanglin Niu, Jing Li, Shanshan Zhang, Tianbo Jin Tags: ORIGINAL ARTICLE Source Type: research

Identification of gene variants in 130 Han Chinese patients with hypospadias by targeted next ‐generation sequencing
ConclusionsHigher frequency mutations were identified inSRD5A2 (52%) andAR (24%) in our patient cohort. Middle or posterior hypospadias with micropenis may be significant indicators of genetic variations. Polygenic inheritance may be a rare genetic cause of hypospadias. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 20, 2019 Category: Genetics & Stem Cells Authors: Wanyu Zhang, Jinxiu Shi, Chenhui Zhang, Xincheng Jiang, Junqi Wang, Wei Wang, Defen Wang, Jihong Ni, Lifen Chen, Wenli Lu, Yuan Xiao, Weijing Ye, Zhiya Dong Tags: ORIGINAL ARTICLE Source Type: research

STAT3 signaling pathway plays importantly genetic and functional roles in HCV infection
ConclusionWe identified STAT3 signaling pathway influenced HCV infection and biochemical characteristics of HCV patients through genetic and functional aspects. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 20, 2019 Category: Genetics & Stem Cells Authors: Yuzhu Song, Xianyao Yang, Yunsong Shen, Yiqian Wang, Xueshan Xia, A ‐Mei Zhang Tags: ORIGINAL ARTICLE Source Type: research

Prenatal cytogenomic identification and molecular refinement of compound heterozygous STRC deletion breakpoints
Here, we report the prenatal detection of a compound heterozygous deletion at chromosome 15q15.3 by clinical chromosomal microarray (CMA) testing that included theCATSPER2 male infertility gene. However, given the low resolution of CMA at this homologous locus, it was unclear if the neighboringSTRC hearing loss gene was also affected. Therefore, we developed a novel allele ‐specific PCR strategy, which narrowed the proximal breakpoint of the maternally inherited deletion to a 310 bp interval that was 440 bp upstream from theSTRC transcription start site. AbstractHere, we report the prenatal detection of a compo...
Source: Molecular Genetics & Genomic Medicine - June 19, 2019 Category: Genetics & Stem Cells Authors: Lisong Shi, Yan Bai, Yara Kharbutli, Andrea M. Oza, Sami S. Amr, Lisa Edelmann, Lakshmi Mehta, Stuart A. Scott Tags: LETTER TO THE EDITOR Source Type: research

Association study of genetic variations of inflammatory biomarkers with susceptibility and severity of obstructive sleep apnea
ConclusionsOur study indicated that functional variants of inflammatory biomarkers could cause the occurrence of OSA and influence the severity of OSA. These findings further support that inflammatory cytokines were closely related to the occurrence and development of OSA. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 18, 2019 Category: Genetics & Stem Cells Authors: Zeming Zhang, Qiubo Wang, Baoyuan Chen, Yancun Wang, Yafang Miao, Li Han Tags: ORIGINAL ARTICLE Source Type: research

A 10 ‐year prevalence of congenital hypothyroidism in Khorramabad (Urban Western Iran)
ConclusionThe overall prevalence of congenital hypothyroidism in young patients up to 3  years is 0.143%, these values are at least twice those of previous estimates. This proposes an elevation in autoimmune thyroid disease, which is similitude to the rising prevalence of diabetes type 1, which possibly indicates a rising incidence of autoimmunity in youth. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 18, 2019 Category: Genetics & Stem Cells Authors: Nadereh Taee, Mojgan Faraji Goodarzi, Mohammad Safdari, Amir Bajelan Tags: ORIGINAL ARTICLE Source Type: research

A novel homozygous initiation codon variant associated with infantile alpha ‐Bcrystallinopathy in a Chinese family
ConclusionsThis article reports one infant withCRYAB‐related neonatal onset MFM with a novel homozygous variant inCRYAB. To our knowledge, this is the first reported case of infantile alpha ‐Bcrystallinopathy in the Chinese population. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 18, 2019 Category: Genetics & Stem Cells Authors: Keze Ma, Dong Luo, Tian Tian, Ning Li, Xiaoguang He, Chunbao Rao, Baimao Zhong, Xiaomei Lu Tags: ORIGINAL ARTICLE Source Type: research

Functional independence of Taiwanese patients with mucopolysaccharidoses
ConclusionMPS patients require support and supervision in self ‐care tasks. For cognition tasks, MPS IIIB patients also require help. This questionnaire is useful to identify the strengths and limitations of MPS patients. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 18, 2019 Category: Genetics & Stem Cells Authors: Chung ‐Lin Lee, Hsiang‐Yu Lin, Chih‐Kuang Chuang, Huei‐Ching Chiu, Ru‐Yi Tu, You‐Hsin Huang, Wuh‐Liang Hwu, Fuu‐Jen Tsai, Pao‐Chin Chiu, Dau‐Ming Niu, Yann‐Jang Chen, Mei‐Chyn Chao, Tung‐Ming Chang, Ju‐Li Lin, Chi Tags: ORIGINAL ARTICLE Source Type: research

A novel mutation in MBTPS2 causes ichthyosis follicularis, alopecia, and photophobia syndrome
ConclusionThis study demonstrated a novelMBTPS2 mutation in a patient with IFAP syndrome and thus expands the knownMBPTS2 molecular repertoire. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 18, 2019 Category: Genetics & Stem Cells Authors: Yanyun Jiang, Hongzhong Jin, Yueping Zeng Tags: CLINICAL REPORT Source Type: research

Chromosomal aberrations in pregnancy and fetal loss: Insight on the effect of consanguinity, review of 1625 cases
This study is a review of 1625 product of abortion and fetal tissue using Array comparative genomic hybridization in combination with QF ‐PCR. This is the second largest study with the main difference 35 percent of couples are related. We found a statistically significant difference between copy number variations and aneuploidies found in related versus unrelated couples. AbstractBackgroundPregnancy loss affects 10% –15% of pregnancies and is caused by several factors, maternal and fetal. Most common cause is chromosomal aneuploidy and has traditionally been detected by karyotyping product of conception and/or feta...
Source: Molecular Genetics & Genomic Medicine - June 18, 2019 Category: Genetics & Stem Cells Authors: Kimia Najafi, Soheila Gholami, Azadeh Moshtagh, Masood Bazrgar, Neda Sadatian, Golemaryam Abbasi, Parvin Rostami, Soheila Khalili, Mojgan Babanejad, Bahareh Nourmohammadi, Negin Faramarzi Garous, Hossein Najmabadi, Roxana Kariminejad Tags: ORIGINAL ARTICLE Source Type: research

Clinical application of chromosomal microarray analysis in fetuses with increased nuchal translucency and normal karyotype
ConclusionCMA improved the diagnostic yield of chromosomal aberrations for fetuses with NTs of 2.5 –3.4 mm and apparently normal karyotype, regardless of whether other ultrasonic abnormalities were observed. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 17, 2019 Category: Genetics & Stem Cells Authors: Linjuan Su, Hailong Huang, Gang An, Meiying Cai, Xiaoqing Wu, Ying Li, Xiaorui Xie, Yuan Lin, Meiying Wang, Liangpu Xu Tags: ORIGINAL ARTICLE Source Type: research

Expression and allele frequencies of Thymic stromal lymphopoietin are a key factor of breast cancer risk
ConclusionThe results reveal significant correlation between SNPs in TSLP and BC progression in Saudi Arabian female patients. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 17, 2019 Category: Genetics & Stem Cells Authors: Abdelhabib Semlali, Mikhlid Almutairi, Narasimha Reddy Parine, Abdullah Al Amri, Rafa Almeer, Mohammad S. Alanazi, Mahmoud Rouabhia Tags: ORIGINAL ARTICLE Source Type: research

Incidence, demographic characteristics, and geographic distribution of sickle cell trait and sickle cell anemia births in Michigan, 1997 –2014
ConclusionCompared to SCA, sickle cell trait births occur at 50 ‐fold greater incidence and have a substantially expanded geographic distribution. Further research is necessary to understand the most appropriate and impactful use of resources to increase the proportion of families and adults that are aware of their sickle cell trait status. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 17, 2019 Category: Genetics & Stem Cells Authors: Sarah L. Reeves, Hannah K. Jary, Jennifer P. Gondhi, Mary Kleyn, Kayte Spector ‐Bagdady, Kevin J. Dombkowski Tags: ORIGINAL ARTICLE Source Type: research

Association of BCR/ABL transcript variants with different blood parameters and demographic features in Iraqi chronic myeloid leukemia patients
ConclusionsThe testified Iraqi group expressed M ‐BCR ‐ABL type with preponderance of b3a2 over b2a2 subtype. There was a gender ‐skewed distribution inBCR ‐ABL transcript types with b3a2 transcript more prevalent in males. The type ofBCR ‐ABL transcript is reflected by different leukocyte and platelet counts at diagnosis, which might represent a distinct phenotype and disease biology. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 17, 2019 Category: Genetics & Stem Cells Authors: Mahmood S. Khazaal, Farqad B. Hamdan, Qasim S. Al ‐Mayah Tags: ORIGINAL ARTICLE Source Type: research

Characterization of large deletions of the MECP2 gene in Rett syndrome patients by gene dosage analysis
ConclusionThese molecular data together with the clinical information enable us to propose a genotype –phenotype correlation, which is essential for providing genetic counseling. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 17, 2019 Category: Genetics & Stem Cells Authors: Silvia Vidal, Ainhoa Pascual ‐Alonso, Marc Rabaza‐Gairí, Edgar Gerotina, Nuria Brandi, Paola Pacheco, Clara Xiol, Mercè Pineda, Rett Working Group, Judith Armstrong Tags: ORIGINAL ARTICLE Source Type: research

The first family with adult osteogenesis imperfecta caused by a novel homozygous mutation in CREB3L1
ConclusionWe report a novel homozygousCREB3L1 mutation in a large Indonesian family; the homozygous affected members have survived to adulthood and they present a more severe phenotype than previously reported, expanding the clinical spectrum of OI for this gene. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 17, 2019 Category: Genetics & Stem Cells Authors: Ferdy K. Cayami, Alessandra Maugeri, Sanne Treurniet, Eva D. Setijowati, Bernd P. Teunissen, Elisabeth M.W. Eekhoff, Gerard Pals, Sultana M. Faradz, Dimitra Micha Tags: CLINICAL REPORT Source Type: research

Long non ‐coding RNA NORAD promotes the occurrence and development of non‐small cell lung cancer by adsorbing MiR‐656‐3p
ConclusionLncRNANORAD is capable of promoting the proliferation and migration of NSCLC cells, and its mechanism may be that it increases theAKT1 expression by adsorbing miR ‐656‐3p. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 17, 2019 Category: Genetics & Stem Cells Authors: Tianyu Chen, Shaoyun Qin, Yinan Gu, Huaqin Pan, Dachen Bian Tags: ORIGINAL ARTICLE Source Type: research

Investigation of new candidate genes in retinoblastoma using the TruSight One “clinical exome” gene panel
This study might be an important report on emphazing the mutational status of other genes in patients withoutRB1 gene mutations and having high risk for developing retinoblastoma. The study also indicates the interaction between the retinoic acid pathway and Rb oncogenesis for the first time. AbstractBackgroundRetinoblastoma (Rb) is the most prevalent intraocular pediatric malignancy of the retina. Significant genetic factors are known to have a role in the development of Rb.MethodsHere, we report the mutation status of 4813 clinically significant genes in six patients with noncarrier ofRB1 gene mutation and having normalR...
Source: Molecular Genetics & Genomic Medicine - June 17, 2019 Category: Genetics & Stem Cells Authors: Demet Akdeniz, Seref Bugra Tuncer, Rejin Kebudi, Betul Celik, Gozde Kuru, Seda Kilic, Ozge Sukruoglu Erdogan, Mukaddes Avsar, Sema Buyukkapu Bay, Samuray Tuncer, Hulya Yazici Tags: ORIGINAL ARTICLE Source Type: research

A new mutL homolog 1 c.1896+5G > A germline mutation detected in a Lynch syndrome ‐associated lung and gastric double primary cancer patient
ConclusionDiagnosis of LS was mainly depended on the following: the cancer histories of his relatives, multi ‐primary cancers of lung and stomach in his own body, MLH1 and MSH2 gene mutations detected in the cancer tissues. The clinical significance of this new MLH1 c.1896+5G>A germline mutation detected in the LS ‐associated double primary cancer patient needed further study. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 17, 2019 Category: Genetics & Stem Cells Authors: Xuyuan Chen, Xiang Li, Hongsen Liang, Lichun Wei, Qiang Cui, Ming Yao, Xu Wu Tags: CLINICAL REPORT Source Type: research

Significant association between RETN genetic polymorphisms and alcohol ‐induced osteonecrosis of femoral head
ConclusionThese results suggest thatRETN genetic polymorphisms are associated with the susceptibility of alcohol ‐induced ONFH in Chinese Han population. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 17, 2019 Category: Genetics & Stem Cells Authors: Chang Liu, Feimeng An, Yuju Cao, Jiaqi Wang, Ye Tian, Huiqiang Wu, Jianzhong Wang Tags: ORIGINAL ARTICLE Source Type: research

KCNQ2 mutations in childhood nonlesional epilepsy: Variable phenotypes and a novel mutation in a case series
ConclusionKCNQ2 ‐related epilepsy led to varied outcomes (from benign to severe) in our patients.KCNQ2 mutations accounted for 13% of patients with seizure onset before 2  months old in our study.KCNQ2 mutations can cause different phenotypes in children. p.(Pro 285Thr) is a novel mutation, and the p.(Pro 285Thr), p.(Ser247Leu), and p.(Thr287Ile) variants can cause neonatal ‐onset epileptic encephalopathy. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 14, 2019 Category: Genetics & Stem Cells Authors: Inn ‐Chi Lee, Tung‐Ming Chang, Jao‐Shwann Liang, Shuan‐Yow Li Tags: ORIGINAL ARTICLE Source Type: research

Pathogenic missense mutation pattern of forkhead box genes in neurodevelopmental disorders
ConclusionOur study shows the pathogenicity of missense and inframeshift variants of NDD ‐related FOX genes, which is important for clinical diagnosis and genetic counseling. Functional analysis is needed to determine the pathogenicity of the variants with uncertain clinical significance. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 14, 2019 Category: Genetics & Stem Cells Authors: Lin Han, Meilin Chen, Yazhe Wang, Huidan Wu, Yingting Quan, Ting Bai, Kuokuo Li, Guiqin Duan, Yan Gao, Zhengmao Hu, Kun Xia, Hui Guo Tags: ORIGINAL ARTICLE Source Type: research

Mutational Analysis of TYR, OCA2, and SLC45A2 Genes in Chinese Families with Oculocutaneous Albinism
ConclusionIn this study, specific clinical characteristics of OCA patients were described. Three novel pathogenic mutations were identified which will enrich the mutation spectrum of OCA, and the prenatal genetic screening in fetus at risk of OCA can provide vital information for genetic counseling. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 14, 2019 Category: Genetics & Stem Cells Authors: Ye Lin, Xihui Chen, Ying Yang, Fengyu Che, Sijia Zhang, Lijuan Yuan, Yuanming Wu Tags: ORIGINAL ARTICLE Source Type: research

Identification of a novel large deletion and other copy number variations in the CFTR gene in patients with Cystic Fibrosis from a multiethnic population
ConclusionOur results highlight the importance of screening for large rearrangements in CF cases with no or only oneCFTR mutation defined. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 14, 2019 Category: Genetics & Stem Cells Authors: Raisa da Silva Martins, Mario Campos Junior, Aline dos Santos Moreira, Ver ônica Marques Zembrzuski, Ana Carolina Proença da Fonseca, Gabriella de Medeiros Abreu, Pedro Hernan Cabello, Giselda Maria Kalil de Cabello Tags: ORIGINAL ARTICLE Source Type: research

Is polycystic kidney disease associated with malignancy in children?
ConclusionOur report illustrates the potential that PKD may be associated with an increased risk for developing cancer, even in children. Further research is necessary to better understand this relationship. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 14, 2019 Category: Genetics & Stem Cells Authors: Brian D. Friend, Kami Wolfe Schneider, Timothy Garrington, Laurel Truscott, Julian A. Martinez ‐Agosto, Robert S. Venick, Eileen Tsai Chambers, Patricia Weng, Douglas G. Farmer, Vivian Y. Chang, Noah Federman Tags: CLINICAL REPORT Source Type: research

Association of a homozygous GCK missense mutation with mild diabetes
ConclusionsWe present the third case of homozygousGCK mutations associated with mild hyperglycemia, rather than PNDM. Our in ‐silico analyses support previous evidences suggesting that protein stability plays a role in determining clinical severity ofGCK mutations. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 14, 2019 Category: Genetics & Stem Cells Authors: Antonella Marucci, Tommaso Biagini, Rosa Di Paola, Claudia Menzaghi, Grazia Fini, Stefano Castellana, Giuliana Marcella Cardinale, Tommaso Mazza, Vincenzo Trischitta Tags: CLINICAL REPORT Source Type: research

Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants
ConclusionsThis study shows that a gene panel that includes the majority of known disease ‐causing genes can rapidly identify a diagnosis in a large number of tested infants. Due to simpler deployment and interpretation and lower costs, this approach might represent an alternative to ES/GS in the NICU/PICU/CICU. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 13, 2019 Category: Genetics & Stem Cells Authors: Luca Brunelli, Sabrina M. Jenkins, James M. Gudgeon, Steven B. Bleyl, Christine E. Miller, Tatiana Tvrdik, Shale A. Dames, Betsy Ostrander, Josue A. F. Daboub, Brandon A. Zielinski, Erin K. Zinkhan, Hunter R. Underhill, Theodore Wilson, Joshu Tags: ORIGINAL ARTICLE Source Type: research

Cover
The cover image based on Original ArticleTooth defects of EEC and AEC syndrome caused by heterozygous TP63 mutations in three Chinese families and genotype ‐phenotype correlation analyses of TP63‐related disorders by Jinglei Zheng et al., DOI:10.1002/mgg3.704. Illustration Credit: Jinglei Zheng. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 13, 2019 Category: Genetics & Stem Cells Authors: Jinglei Zheng, Haochen Liu, Yuan Zhan, Yang Liu, Sing ‐Wai Wong, Tao Cai, Hailan Feng, Dong Han Tags: COVER Source Type: research

Issue Information
Molecular Genetics&Genomic Medicine, Volume 7, Issue 6, June 2019. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - June 13, 2019 Category: Genetics & Stem Cells Tags: ISSUE INFORMATION Source Type: research