First reported CABP2 ‐related non‐syndromic hearing loss in Northern Europe
ConclusionWe report the first case ofCABP2‐related autosomal recessive hearing loss in Northern Europe. The index is of Danish Caucasian origin and found to be homozygous for the splice site variant c.637+1G>T. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 5, 2021 Category: Genetics & Stem Cells Authors: Inger Norlyk Sheyanth, Allan Thomas H øjland, Henrik Okkels, Ihab Lolas, Christian Thorup, Michael Bjørn Petersen Tags: CLINICAL REPORT Source Type: research

Deletion of conserved non ‐coding sequences downstream from NKX2‐1: A novel disease‐causing mechanism for benign hereditary chorea
ConclusionWe propose that the deletion of potential regulatory elements necessary forNKX2‐1 expression in this critical region is responsible for BHC phenotype in these patients, and this is a novel disease ‐causing mechanism for BHC. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 5, 2021 Category: Genetics & Stem Cells Authors: Jun Liao, Keith A. Coffman, Joseph Locker, Quasar S. Padiath, Bruce Nmezi, Robyn A. Filipink, Jie Hu, Malini Sathanoori, Suneeta Madan ‐Khetarpal, Marianne McGuire, Allison Schreiber, Rocio Moran, Neil Friedman, Lori Hoffner, Aleksandar Ra Tags: CLINICAL REPORT Source Type: research

Clinical exome sequencing reveals a mutation in PDHA1 in Leigh syndrome: A case of a Chinese boy with lethal neuropathy
ConclusionThis case suggests that gene detection should be popularized to improve diagnosis accuracy, especially in developing countries such as China. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 4, 2021 Category: Genetics & Stem Cells Authors: Ke Gong, Li Xie, Zhong ‐shi Wu, Xia Xie, Xing‐xing Zhang, Jin‐Lan Chen Tags: CLINICAL REPORT Source Type: research

Treatment efficacy of high ‐dose creatine supplementation in a child with creatine transporter (SLC6A8) deficiency
ConclusionWe conclude that high ‐dose creatine supplementation (1200 mg/kg/d) alone improved muscular symptoms, but did not improve cognitive symptoms and brain creatine concentration assessed using H‐MRS. Therefore, new treatment strategies are required for the management of creatine transporter deficiency. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 3, 2021 Category: Genetics & Stem Cells Authors: Kaili Shi, Huimin Zhao, Shuming Xu, Hong Han, Wenjuan Li Tags: CLINICAL REPORT Source Type: research

Worldwide variation of the COL14A1 gene is shaped by genetic drift rather than selective pressure
ConclusionSignificant differences were observed in the rs4870723 SNP distribution among the populations studied. However, we found no evidence for a selective pressure. Rather, the differentiation among the populations is likely the result of founder effect, genetic drift, and cultural factors, all events known to establish and maintain genetic diversity between populations. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 2, 2021 Category: Genetics & Stem Cells Authors: Carla M. Cal ò, Federico Onali, Renato Robledo, Laura Flore, Myosotis Massidda, Paolo Francalacci Tags: ORIGINAL ARTICLE Source Type: research

The investigation of genetic and clinical features in patients with hereditary spastic paraplegia in central ‐Southern China
ConclusionsOur findings strongly support variable phenotype ofB4GALNT1‐related SPG26 and also expand the clinical and mutation spectrum of HSP caused by mutations inSPAST,SPG11, andB4GALNT1. These results will help to improve the efficiency of early diagnosis in patients clinically suspected of HSP. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 27, 2021 Category: Genetics & Stem Cells Authors: Chen Wang, Yun ‐Jian Zhang, Ci‐Hao Xu, Li De, Zhi‐Jun Liu, Yan Wu Tags: ORIGINAL ARTICLE Source Type: research

Genetic etiology study of four Chinese families with two nonsyndromic deaf children in succession by targeted next ‐generation sequencing
ConclusionsUsing the NGS detection technology, we found the genetic etiology of the HL in part of deaf families. Our study provided a useful piece of information for the variant spectrum of hearing loss in Chinese families with two deaf children in succession. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 27, 2021 Category: Genetics & Stem Cells Authors: Caixia Xiao, Shuang Liu, Hongyue Wang, Yibing Ding, Yaqiu Chen, Haiyan Liu Tags: ORIGINAL ARTICLE Source Type: research

Mutation analysis and prenatal diagnosis of a family with congenital contractural arachnodactyly
ConclusionThe study is onFBN2 variant in CCA, which potentially having implications for genetic counseling and clinical management, our study may provide new insights into the cause and diagnosis of CCA. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 27, 2021 Category: Genetics & Stem Cells Authors: Lin Hu, Huanzheng Li, Guang Sun, Ke Wu, Zhaotang Luan, Yanbao Xiang, Shaohua Tang Tags: ORIGINAL ARTICLE Source Type: research

Concordance and characterization of massively parallel sequencing at 58 STRs in a Tibetan population
ConclusionsOur data suggest that MPS ‐ and CE‐derived alleles are compatible. MPS‐based analysis of the STR data substantially increased the allele diversity and improved the forensic parameters, which clearly demonstrated the advantages of MPS in comparison to CE. With more pooled data and larger‐scale validation, MPS could pl ay a valuable role in forensic genetics and might be an additional tool for routine casework. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 25, 2021 Category: Genetics & Stem Cells Authors: Hui Li, Cheng Zhang, Guoqing Song, Ke Ma, Yu Cao, Xueying Zhao, Qinrui Yang, Jianhui Xie Tags: ORIGINAL ARTICLE Source Type: research

Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria
ConclusionThis case highlights how expanded carrier screening adds complexity to reproductive decision ‐making. Stronger guidelines and additional research are needed to direct and evaluate the timing, composition, and implementation of ECS panels. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 24, 2021 Category: Genetics & Stem Cells Authors: Marie Cosette Gabriel, Stephanie M. Rice, Jennifer L. Sloan, Matthew H. Mossayebi, Charles P. Venditti, Huda B. Al ‐Kouatly Tags: ORIGINAL ARTICLE Source Type: research

High throughput screening for expanded CTG repeats in myotonic dystrophy type 1 using melt curve analysis
ConclusionWe demonstrate that robust detection of expanded CTG repeats in a single tube can be achieved from samples derived from specimens with minimal template DNA such as dried blood spots (DBS). This technique is readily adaptable to large ‐scale testing programs such as population studies and newborn screening programs. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 24, 2021 Category: Genetics & Stem Cells Authors: Russell J. Butterfield, Carina Imburgia, Katie Mayne, Tara Newcomb, Diane M. Dunn, Brett Duval, Marcia L. Feldkamp, Nicholas E. Johnson, Robert B. Weiss Tags: METHOD Source Type: research

Association of MACROD2 gene variants with obesity and physical activity in a Korean population
ConclusionsThis study demonstrated that variants in theMACROD2 gene were correlated with obesity, phenotypic traits, and physical activity in the Korean population. Therefore, we suggest the possibility of preventing obesity by identifying this genetic variation and the interactive effect of lifestyle in Koreans. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 24, 2021 Category: Genetics & Stem Cells Authors: Hye ‐Rim Kim, Hyun‐Seok Jin, Yong‐Bin Eom Tags: ORIGINAL ARTICLE Source Type: research

Relationship of ITPKA expression with the prognosis of breast cancer
In summary, the expression of ITPKA was elevated in tissue samples of BC and served as a potential prognostic biomarker in patients with BC. Despite we provided evidences for ITPKA as the prognostic factor in BC, the molecular mechanisms of ITPKA acts in BC needs to be further explored in the further. AbstractBackgroundBreast cancer (BC) represents a most common cancer among women worldwide. The outcomes of this disease remain dismal due to frequent recurrence and metastasis. Inositol ‐1,4,5‐trisphosphate‐3‐kinase‐A (ITPKA) plays an important role in regulating calcium signaling and actin dynamics. The dysregulat...
Source: Molecular Genetics & Genomic Medicine - February 24, 2021 Category: Genetics & Stem Cells Authors: Jie Zhang, Sujie Zhang, Xiaoyan Li, Hongying Pi Tags: ORIGINAL ARTICLE Source Type: research

Clinical manifestation and phenotypic analysis of novel gene mutation in 28 Chinese children with hereditary spherocytosis
ConclusionAll the newly discovered gene coding region mutation sites detected are the suspected pathogenic causes of the 28 Chinese children. At the same time, the second ‐generation gene sequencing technology is an effective means to diagnose HS. Different mutation types and different mutation regions have no significant correlation with the severity of anemia. The novel gene mutation sites in 28 children studied in this paper have not yet been included in the hum an genome database, dbSNP (v138), or ExAC database. The new gene mutations found in HS children can provide a theoretical basis for further exploring the gene...
Source: Molecular Genetics & Genomic Medicine - February 23, 2021 Category: Genetics & Stem Cells Authors: Fei Xie, Lei Lei, Bin Cai, Lu Gan, Yu Gao, Xiaoying Liu, Lin Zhou, Jinjin Jiang Tags: ORIGINAL ARTICLE Source Type: research

Allelic and genotype frequencies of major CYP2B6 polymorphisms in the Pakistani population
ConclusionsOur results suggest that the frequency of poor metabolizers of CYP2B6, especially *6 variant, is significant enough in the Pakistani population to be given an important consideration when drugs metabolized by this enzyme are prescribed. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 18, 2021 Category: Genetics & Stem Cells Authors: Sagheer Ahmed, Saeed Khan, Kholood Janjua, Imran Imran, Arif Ullah Khan Tags: ORIGINAL ARTICLE Source Type: research

Novel compound heterozygous variants of TBXAS1 presenting with Ghosal hematodiaphyseal dysplasia treated with steroids
ConclusionWe report three Caucasian siblings from non ‐consanguineous parents with novel compound heterozygous variants ofTBXAS1 presenting with the phenotypes of GHDD. These three cases illustrate the variable clinical expressivity of the GHDD from two ‐compound heterozygous pathogenic variants ofTBXAS1. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 17, 2021 Category: Genetics & Stem Cells Authors: Sun Young Kim, Alexander Ing, Shunyou Gong, Kai Lee Yap, Rukhmi Bhat Tags: CLINICAL REPORT Source Type: research

Identification and characterization of six β‐crystallin gene mutations associated with congenital cataract in Chinese families
ConclusionThe obtained results expanded mutational and phenotype spectrum of β‐crystallin genes and offer clues for pathogenesis of congenital cataracts. The data also demonstrated that targeted exome sequencing is valuable for providing molecular diagnostic information for congenital cataract patients. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 17, 2021 Category: Genetics & Stem Cells Authors: Yinhui Yu, Yue Qiao, Yang Ye, Jinyu Li, Ke Yao Tags: ORIGINAL ARTICLE Source Type: research

Vitamin D status and CYP27B1 ‐1260 promoter polymorphism in Tunisian patients with systemic lupus erythematosus
ConclusionDespite the sunny climate, the high prevalence of Vit D deficiency is common in  Tunisia. This hypovitaminosis D feature may affect the Vit D levels in our SLE patients but a direct association with the disease or with the genetically determined features remains unclear. More studies are needed to establish thresholds and susceptibility genes according to the characteristics o f each population. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 17, 2021 Category: Genetics & Stem Cells Authors: Raouia Fakhfakh, Sawsan Feki, Aida Elleuch, Manel Neifar, Sameh Marzouk, Nesrine Elloumi, Hend Hachicha, Olfa Abida, Zouhir Bahloul, Fatma Ayadi, Hatem Masmoudi Tags: ORIGINAL ARTICLE Source Type: research

Clinical and genetic characterization of autosomal recessive stickler syndrome caused by novel compound heterozygous mutations in the COL9A3 gene
ConclusionThis case further expands the mutational and phenotypic spectrum ofCOL9A‐associated STL with a more severe presentation. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 11, 2021 Category: Genetics & Stem Cells Authors: Tatiana Markova, Peter Sparber, Artem Borovikov, Tatiana Nagornova, Elena Dadali Tags: CLINICAL REPORT Source Type: research

Gene spectrum and clinical traits of 10 patients with primary carnitine deficiency
ConclusionMS/MS screening on PCD contributed to the early diagnosis and screening. In addition,SLC22A5 gene mutation analysis contributed to the PCD screening. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 11, 2021 Category: Genetics & Stem Cells Authors: Yao Chen, Qingying Lin, Yinglin Zeng, Xiaolong Qiu, Guanghua Liu, Wenbin Zhu Tags: ORIGINAL ARTICLE Source Type: research

Compound hemizygous variants in SERPINA7 gene cause thyroxine ‐binding globulin deficiency
ConclusionAnalyses revealed the p.L303F change the protein stability and flexibility, and it had an impact on the function of TBG, but when coexisted with other variants it might change the conformational structure of the protein and aggravate the damage to the protein. We speculated that the existence of a higher number of variants resulted in lower TBG secretion. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 8, 2021 Category: Genetics & Stem Cells Authors: Yanlan Fang, Hong Chen, Qingqing Chen, Chunlin Wang, Li Liang Tags: ORIGINAL ARTICLE Source Type: research

The Rh blood group system and its role in alloimmunization rate among sickle cell disease and sickle thalassemia patients in Iran
ConclusionR0r ′ and R1R0 genotypes were limited to our population in Iran. Due to the differences in RH genotypes between our population and others, the blood transfusion from other ethnicities increased our total alloimmunization rate. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 6, 2021 Category: Genetics & Stem Cells Authors: Mohammad Ali Jalali Far, Arezoo Oodi, Naser Amirizadeh, Mahshid Mohammadipour, Bijan Keikhaei Dehdezi Tags: ORIGINAL ARTICLE Source Type: research

Negotiating political power and stigma around fragile X Syndrome in a rural village in Cameroon: A tale of a royal family and a community
ConclusionWe advocate that other researchers examine if the same pattern exists in other inheritable forms of ID and conduct more qualitative research on FXS in Africa. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 5, 2021 Category: Genetics & Stem Cells Authors: Karen Kengne Kamga, Nchangwi Syntia Munung, S éraphin Nguefack, Ambroise Wonkam, Jantina De Vries Tags: ORIGINAL ARTICLE Source Type: research

A report on seven fetal cases associated with 15q11 ‐q13 microdeletion and microduplication
ConclusionTherefore, parents of such fetuses should be informed of the possibility of microdeletions or microduplications to mitigate the psychological burden, and medical consultation and assistance should be provided when communicating the results of the mid ‐gestation screening. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 4, 2021 Category: Genetics & Stem Cells Authors: Xiuzhu Huang, Jieping Chen, Wenlong Hu, Lu Li, Huiyan He, Hui Guo, Qiuyan Liao, Mei Ye, Donge Tang, Yong Dai Tags: CLINICAL REPORT Source Type: research

A novel SPINK5 donor splice site variant in a child with Netherton syndrome
ConclusionThe 2015+5G>A is a novel, likely pathogenic variant in NS. Herein we review and assimilate documentedSPINK5 pathogenic variants and discuss possible genotype –phenotype associations in NS. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 4, 2021 Category: Genetics & Stem Cells Authors: Dillon Mintoff, Isabella Borg, Julia Vornweg, Liam Mercieca, Rijad Merdzanic, Johannes Numrich, Susan Aquilina, Nikolai Paul Pace, Judith Fischer Tags: CLINICAL REPORT Source Type: research

Combining bioinformatics analysis and experiments to explore CARNS1 as a prognostic biomarker for breast cancer
ConclusionOur findings have demonstrated thatCARNS1 acts as a tumor suppressor gene and may be an independent prognostic indicator for breast cancer patients. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 3, 2021 Category: Genetics & Stem Cells Authors: Li Zhang, Yan Zhang, Xin Zhang, Xinyu Li, Miao He, Shixing Qiao Tags: ORIGINAL ARTICLE Source Type: research

Whole exome sequencing reveals a biallelic frameshift mutation in GRXCR2 in hearing impairment in Cameroon
ConclusionThis study confirmsGRXCR2 as a HI ‐associated gene.GRXCR2 should be included to the currently available TGE panels for HI diagnosis. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - February 2, 2021 Category: Genetics & Stem Cells Authors: Ambroise Wonkam, Kamogelo Lebeko, Shaheen Mowla, Jean Jacques Noubiap, Mike Chong, Guillaume Pare Tags: ORIGINAL ARTICLE Source Type: research

A novel Xp11.22 –22.33 deletion suggesting a possible mechanism of congenital cervical spinal muscular atrophy
ConclusionThe phenotypic similarities between this CCSMA case and XL ‐SMA prompt us to hypothesize a possible connection betweenUBA1 gene deficit and the pathogenesis of CCSMA. Our study is the first to demonstrate that CCSMA might have a genetic etiology, thus, expanding our insights into the underlying cause of CCSMA. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 29, 2021 Category: Genetics & Stem Cells Authors: Jingwei Liu, Kelai Wang, Baomin Li, Xiaofan Yang Tags: ORIGINAL ARTICLE Source Type: research

Identification of two novel homozygous nonsense mutations in TRAPPC9 in two unrelated consanguineous families with intellectual Disability from Iran
ConclusionThe two novel variants found inTRAPPC9 caused truncated protein and clinical manifestations such as ID, developmental delay, microcephaly, and brain abnormalities in three patients. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 29, 2021 Category: Genetics & Stem Cells Authors: Farideh Yousefipour, Hossein Mozhdehipanah, Frouzandeh Mahjoubi Tags: ORIGINAL ARTICLE Source Type: research

Functional analysis of the F337C mutation in the CLCN1 gene associated with dominant myotonia congenita reveals an alteration of the macroscopic conductance and voltage dependence
ConclusionTo our knowledge, this is the first report of a mixed alteration in the biophysical properties of hClC ‐1 consisting of a reduced conductance at resting potential and an almost abolished voltage dependence. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 28, 2021 Category: Genetics & Stem Cells Authors: Kevin Jehasse, Kathleen Jacquerie, Alice de Froidmont, Camille Lemoine, Thierry Grisar, Katrien Stouffs, Bernard Lakaye, Vincent Seutin Tags: ORIGINAL ARTICLE Source Type: research

Gene correction of the CLN3 c.175G > A variant in patient ‐derived induced pluripotent stem cells prevents pathological changes in retinal organoids
ConclusionOur results demonstrate the expression of novelCLN3 transcripts in human retinal tissues. The c.175G>A variant alters splicing of theCLN3 pre ‐mRNA, leading to features consistent with CLN3 deficiency, which were prevented by gene correction. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 28, 2021 Category: Genetics & Stem Cells Authors: Xiao Zhang, Dan Zhang, Jennifer A. Thompson, Shang ‐Chih Chen, Zhiqin Huang, Luke Jennings, Terri L. McLaren, Tina M. Lamey, John N. De Roach, Fred K. Chen, Samuel McLenachan Tags: ORIGINAL ARTICLE Source Type: research

BMPR1B gene in brachydactyly type 2 –A family with de novo R486W mutation and a disease phenotype
ConclusionIn this paper, we report a case of BDA2 resulting from the presence of a heterozygous c.1456C>T, p.Arg486Trp variant inBMPR1B, which was previously associated with BDA2. The next generation sequencing analysis of the patients ’ family revealed that the mutation occurredde novo in the proband and was transmitted to his 26 ‐month‐old son. Although the same variant was confirmed in both patients, their phenotypes were different with more severe manifestation of the disease in the adult. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 24, 2021 Category: Genetics & Stem Cells Authors: Marcin Bednarek, Marek Trybus, Monika Kolanowska, Mateusz Koziej, Beata Kiec ‐Wilk, Artur Dobosz, Marta Kotlarek‐Łysakowska, Anna Kubiak‐Dydo, Ewelina Użarowska‐Gąska, Julia Staręga‐Rosłan, Paweł Gaj, Izabela Górzyńska, Katar Tags: ORIGINAL ARTICLE Source Type: research

Update of genetic variants in CEP120 and CC2D2A —With an emphasis on genotype‐phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies
ConclusionGenotype ‐phenotype correlations forCC2D2A support the deleteriousness of null alleles andCC2D2A, but notCEP120, offers potential for therapeutic exon skipping approaches. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 24, 2021 Category: Genetics & Stem Cells Authors: Miguel Barroso ‐Gil, Eric Olinger, Simon A. Ramsbottom, Elisa Molinari, Colin G. Miles, John A. Sayer Tags: ORIGINAL ARTICLE Source Type: research

Genetic variants associated with diseases in Afghan population
Molecular Genetics& Genomic Medicine, EarlyView. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 24, 2021 Category: Genetics & Stem Cells Authors: Suleman Khan Zadran, Muhammad Ilyas, Shamsia Dawari Tags: LETTER TO THE EDITOR Source Type: research

Loss ‐of‐function or gain‐of‐function variations in VINCULIN (VCL) are risk factors of human neural tube defects
ConclusionOur study reports human NTD specific novel variations inVCL and provides the functional evaluation ofVCL variants related to the etiology of human NTDs. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 24, 2021 Category: Genetics & Stem Cells Authors: Yalan Wang, Yue Qin, Rui Peng, Hongyan Wang Tags: ORIGINAL ARTICLE Source Type: research

A rare gene variation cap +1 (A > C) (HBB: c. −50A > C) associated with codon 5 ( ‐CT) (HBB: c.17_18delCT) mutation in Syrian family
ConclusionsThe compound heterozygotes of the silent CAP+1 (A>C) together with another severe beta gene mutation, are phenotypically severe enough to present at an early age and require appropriate therapeutic modalities. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 24, 2021 Category: Genetics & Stem Cells Authors: Hossam Murad, Faten Moassas, Nour A. L. Fakseh Tags: CLINICAL REPORT Source Type: research

Characteristic facial features and cortical blindness distinguish the DOCK7 ‐related epileptic encephalopathy
ConclusionDOCK7 deficiency causes a definable clinical entity, a recognizable type of epileptic encephalopathy. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 20, 2021 Category: Genetics & Stem Cells Authors: Edda Haberlandt, Taras Valovka, Tanja Janjic, Thomas M üller, Georgios Blatsios, Daniela Karall, Andreas R. Janecke Tags: ORIGINAL ARTICLE Source Type: research

Whole genome sequencing reveals translocation breakpoints disrupting TP63 gene underlying split hand/foot malformation in a Chinese family
ConclusionThis study firstly reports that a translocation breakpoint disruptingTP63 contributes to the SHFM in a Chinese family, which expands our knowledge of genetic risk and counseling underlying SHFM. It provides a basis for genetic counseling and prenatal diagnosis (preimplantation genetic diagnosis) for this family. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 20, 2021 Category: Genetics & Stem Cells Authors: Ying Peng, Shuting Yang, Hui Xi, Jiancheng Hu, Zhengjun Jia, Jialun Pang, Jing Liu, Wenxian Yu, Chengyuan Tang, Hua Wang Tags: CLINICAL REPORT Source Type: research

Phenylketonuria in Portugal: Genotype –phenotype correlations using molecular, biochemical, and haplotypic analyses
ConclusionOur data reveal high heterogeneity at the biochemical and molecular levels and are expected to provide a better understanding of the molecular basis of this disease and to provide clues to elucidate genotype –phenotype correlations. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 19, 2021 Category: Genetics & Stem Cells Authors: Filipa Ferreira, Lu ísa Azevedo, Raquel Neiva, Carmen Sousa, Helena Fonseca, Ana Marcão, Hugo Rocha, Célia Carmona, Sónia Ramos, Anabela Bandeira, Esmeralda Martins, Teresa Campos, Esmeralda Rodrigues, Paula Garcia, Luísa Diogo, Ana Cr Tags: ORIGINAL ARTICLE Source Type: research

Duplication of 9p24.3 in three unrelated patients and their phenotypes, considering affected genes, and similar recurrent variants
ConclusionWe concluded that 9p24.3 is a likely cause of ASD and ID/DD, especially in cases ofDOCK8 intragenic duplication.DOCK8 is a likely causative gene, and KANK1 aberrations a modulator, of the clinical phenotype observed. Other modulators were not excluded. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 17, 2021 Category: Genetics & Stem Cells Authors: Zuzana Capkova, Pavlina Capkova, Josef Srovnal, Katerina Adamova, Martin Prochazka, Marian Hajduch Tags: CLINICAL REPORT Source Type: research

High frequency of the risk allele of rs4132601 and rs11978267 from the IKZF1 gene in indigenous Mexican population
ConclusionThe Huichol population from Nayarit presented the highest frequencies of the risk allele reported to date in the whole world for bothrs4132601 andrs11978267 polymorphisms. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 16, 2021 Category: Genetics & Stem Cells Authors: Jorge Guti érrez‐Franco, Miriam Fabiola Ayón‐Pérez, Ma. de Jesús Durán‐Avelar, Norberto Vibanco‐Pérez, Diego Eduardo Sánchez‐Jasso, Dulce Guadalupe Bañuelos‐Aguayo, Jaime Sánchez‐Meza, Helia Judith Pimentel‐Gutiérrez, Jos Tags: ORIGINAL ARTICLE Source Type: research

Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient
ConclusionsThis study expanded the mutation spectrum of alterations of theBTD gene. Our patient also emphasized the critical role of biotinidase activity measurement combined with mutation analysis in early diagnosis of biotinidase deficiency. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 16, 2021 Category: Genetics & Stem Cells Authors: Jia Geng, Yi Sun, Yi Zhao, Wenyu Xiong, Mingjun Zhong, Yajuan Zhang, Qiuling Zhao, Zhongwei Bao, Jing Cheng, Yu Lu, Huijun Yuan Tags: ORIGINAL ARTICLE Source Type: research

Netherton syndrome caused by compound heterozygous mutation, c.80A > G mutation in SPINK5 and large ‐sized genomic deletion mutation, and successful treatment of intravenous immunoglobulin
ConclusionsThis is the first observation of NS caused by a large deletion. Our findings have important implications for mutation screening and genetic counseling in NS. Our report also verifies and supports the safety and efficacy of IVIG therapy in patients with NS. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 16, 2021 Category: Genetics & Stem Cells Authors: Zhen Zhang, Chaolan Pan, Ruoqu Wei, Huaguo Li, Yijun Yang, Jiawen Chen, Ming Li, Zhirong Yao Tags: ORIGINAL ARTICLE Source Type: research

Genetic structure and forensic characterization of 36 Y ‐chromosomal STR loci in Tibeto‐Burman‐speaking Yi population
ConclusionsThe population stratification was almost consistent with the geographic distribution and language ‐family, both among Chinese and worldwide ethnic groups. Our data may provide useful information for paternal lineage in the forensic application and population genetics, as well as evidence for archaeological and historical research. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 15, 2021 Category: Genetics & Stem Cells Authors: Zhengyang Song, Qian Wang, Han Zhang, Jing Tang, Qiyan Wang, Hongling Zhang, Meiqing Yang, Jingyan Ji, Zheng Ren, Yan Wu, Jiang Huang Tags: ORIGINAL ARTICLE Source Type: research

Dual activating FGFR1 mutations in pediatric pilomyxoid astrocytoma
ConclusionSimilar variant allele frequencies ofFGFR1 p.K656E andFGFR1 p.V561M mutations in our patient's tumor suggest that these mutations may have occurred at similar time points. Use of FGFR inhibitors in addition to STAT3 or PI3K/mTOR inhibition may prove a useful strategy in targeting our patient's pilomyxoid astrocytoma. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 14, 2021 Category: Genetics & Stem Cells Authors: Elena I. Fomchenko, Benjamin C. Reeves, William Sullivan, Asher M. Marks, Anita Huttner, Kristopher T. Kahle, E. Zeynep Erson ‐Omay Tags: CLINICAL REPORT Source Type: research

Palmoplantar keratoderma with deafness phenotypic variability in a patient with an inherited GJB2 frameshift variant and novel missense variant
ConclusionOverall, we show the p.Met34Lys variant is a novel dominant acting variant causing PPK with deafness. The presence of a loss a function variant on the other allele creates a more severe clinical phenotype, with some features reminiscent of KID syndrome. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 14, 2021 Category: Genetics & Stem Cells Authors: Emma C. Bedoukian, Stefan Rentas, Cara Skraban, Qing Shao, James Treat, Dale W. Laird, Kathleen E. Sullivan Tags: CLINICAL REPORT Source Type: research

Vanishing white matter: Eukaryotic initiation factor 2B model and the impact of missense mutations
ConclusionMutations that lead to (ultra ‐)severe disease mostly affect amino acids with pivotal roles in complex formation and function of eIF2B. Therapies for VWM are emerging and reliable mutation‐based phenotype prediction is required for propensity score matching for trials and in the future for individualized therapy decisions. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 12, 2021 Category: Genetics & Stem Cells Authors: Inna Slynko, Stephanie Nguyen, Eline M. C. Hamilton, Lisanne E. Wisse, Iwan J. P. Esch, Chris Graaf, John B. Bruning, Christopher G. Proud, Truus E. M. Abbink, Marjo S. Knaap Tags: ORIGINAL ARTICLE Source Type: research

Gain ‐of‐function mutation Met136Val in SCN8A may not be a common cause of trigeminal neuralgia
ConclusionMet136Val mutation inSCN8A is not a frequent cause of classical trigeminal neuralgia. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 11, 2021 Category: Genetics & Stem Cells Authors: Raymond F. Sekula, Kathleen Deeley, Hayley Denwood, Alexandre R. Vieira Tags: LETTER TO THE EDITOR Source Type: research

Isobutyryl ‐CoA dehydrogenase deficiency associated with autism in a girl without an alternative genetic diagnosis by trio whole exome sequencing: A case report
ConclusionAs in our proband, trio whole exome sequencing did not establish an alternative secondary genetic diagnosis for autism, and reported long ‐term follow‐up of IBDD patients is limited, it is possible that autism spectrum disorders could be one of the disease‐associated features. Further long‐term follow‐up is suggested in order to delineate the full clinical spectrum associated with IBDD. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - January 11, 2021 Category: Genetics & Stem Cells Authors: Maria Eleftheriadou, Evita Medici ‐ van den Herik, Kyra Stuurman, Yolande Bever, Debby M. E. I. Hellebrekers, Marjon Slegtenhorst, George Ruijter, Tahsin Stefan Barakat Tags: CLINICAL REPORT Source Type: research

The association of lncRNA SNPs and SNPs ‐environment interactions based on GWAS with HBV‐related HCC risk and progression
In HBV ‐related HCC patients, CHB carriers, and HBV natural clearance subjects from Southern Chinese,lnc ‐ACACA‐1 rs9908998 was found to significantly increase the risk of lymphatic metastasis.Lnc ‐RP11‐150O12.3 rs2275959, rs1008547, rs11776545 with cancer family history may show significant multiplicative and additive interactions on HBV ‐related HCC susceptibility. The associations of rs2275959, rs1008547, rs11776545 with distant metastasis of HBV‐related HCC patients were observed. Taken together,lnc ‐ACACA‐1 rs9908998,lnc ‐RP11‐150O12.3 rs2275959, rs1008547, rs11776545 might be predictors for HBV ...
Source: Molecular Genetics & Genomic Medicine - January 11, 2021 Category: Genetics & Stem Cells Authors: Qing Liu, Guiyan Liu, Zhifeng Lin, Ziqiang Lin, NaNa Tian, Xinqi Lin, Jianyi Tan, Baoying Huang, Xiaohui Ji, Lucheng Pi, Xinfa Yu, Li Liu, Yanhui Gao Tags: ORIGINAL ARTICLE Source Type: research