Dual molecular diagnosis of tricho-rhino-phalangeal syndrome type I and Okur-Chung neurodevelopmental syndrome in one Chinese patient: a case report
Okur-Chung neurodevelopmental syndrome (OCNDS) and tricho-rhino-phalangeal syndrome type I (TRPSI) are rare Mendelian diseases. OCNDS is caused by CSNK2A1 gene variants and TRPSI is caused by the TRPS1gene. Howev... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - August 3, 2020 Category: Genetics & Stem Cells Authors: Shanshan Xu, Qun Lian, Jinzhun Wu, Lingli Li and Jia Song Tags: Case report Source Type: research

Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence
Heroin dependence is a complex disease with multiple phenotypes. Classification of heroin users into more homogeneous subgroups on the basis of these phenotypes could help to identify the involved genetic fact... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - July 31, 2020 Category: Genetics & Stem Cells Authors: Yunxiao Li, Yongsheng Zhu, Jianghua Lai, Xugang Shi, Yuanyuan Chen, Jinyu Zhang and Shuguang Wei Tags: Research article Source Type: research

Clinical, biochemical, and genetic analysis of a Chinese Han pedigree with holocarboxylase synthetase deficiency: a case report
Holocarboxylase synthetase (HLCS) deficiency is a rare inborn disorder of biotin metabolism, which results in defects in several biotin-dependent carboxylases and presents with metabolic ketoacidosis and skin ... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - July 29, 2020 Category: Genetics & Stem Cells Authors: Zhenzhu Zheng, Gaopin Yuan, Minyan Zheng, Yiming Lin, Faming Zheng, Mengyi Jiang, Lin Zhu and Qingliu Fu Tags: Case report Source Type: research

A novel MYH14 mutation in a Chinese family with autosomal dominant nonsyndromic hearing loss
MYH14 gene mutations have been suggested to be associated with nonsyndromic/syndromic sensorineural hearing loss. It has been reported that mutations in MYH14 can result in autosomal dominant nonsyndromic deafnes... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - July 25, 2020 Category: Genetics & Stem Cells Authors: Mingming Wang, Yicui Zhou, Fengguo Zhang, Zhaomin Fan, Xiaohui Bai and Haibo Wang Tags: Research article Source Type: research

Gene expression profiling of fibroblasts in a family with LMNA-related cardiomyopathy reveals molecular pathways implicated in disease pathogenesis
Intermediate filament proteins that construct the nuclear lamina of a cell include the Lamin A/C proteins encoded by the LMNA gene, and are implicated in fundamental processes such as nuclear structure, gene expr... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - July 22, 2020 Category: Genetics & Stem Cells Authors: Halida P. Widyastuti, Trina M. Norden-Krichmar, Anna Grosberg and Michael V. Zaragoza Tags: Research article Source Type: research

Severe syndromic ID and skewed X-inactivation in a girl with NAA10 dysfunction and a novel heterozygous de novo NAA10 p.(His16Pro) variant - a case report
NAA10 is the catalytic subunit of the major N-terminal acetyltransferase complex NatA which acetylates almost half the human proteome. Over the past decade, many NAA10 missense variants have been reported as c... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - July 22, 2020 Category: Genetics & Stem Cells Authors: Ingrid Bader, Nina McTiernan, Christine Darbakk, Eugen Boltshauser, Rasmus Ree, Sabine Ebner, Johannes A. Mayr and Thomas Arnesen Tags: Case report Source Type: research

Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families
Hearing loss is the most common sensory defect, and it affects over 6% of the population worldwide. Approximately 50 –60% of hearing loss patients are attributed to genetic causes. Currently, more than 100 gene... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - July 18, 2020 Category: Genetics & Stem Cells Authors: Yingjie Zhou, Muhammad Tariq, Sijie He, Uzma Abdullah, Jianguo Zhang and Shahid Mahmood Baig Tags: Research article Source Type: research

A novel G6PD deleterious variant identified in three families with severe glucose-6-phosphate dehydrogenase deficiency
Glucose-6-phosphate dehydrogenase deficiency (D-G6PD) is an X-linked recessive disorder resulted from deleterious variants in the housekeeping gene Glucose-6-phosphate 1-dehydrogenase (G6PD), causing impaired res... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - July 17, 2020 Category: Genetics & Stem Cells Authors: Yongqing Tong, Bei Liu, Hongyun Zheng, Anyu Bao, Zegang Wu, Jian Gu, Bi-Hua Tan, Mary McGrath, Shriya Kane, Chunhua Song and Yan Li Tags: Research article Source Type: research

Novel ECHS1 mutations in Leigh syndrome identified by whole-exome sequencing in five Chinese families: case report
Short-chain enoyl-CoA hydratase deficiency (ECHS1D), also known as ECHS1 deficiency, is a rare inborn metabolic disorder with clinical presentations characterized by Leigh syndrome (LS). Thirty-four different ... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - July 16, 2020 Category: Genetics & Stem Cells Authors: Dan Sun, Zhimei Liu, Yongchu Liu, Miaojuan Wu, Fang Fang, Xianbo Deng, Zhisheng Liu, Liang Song, Kei Murayama, Chunhua Zhang and Yuanyuan Zhu Tags: Case report Source Type: research

Association of MUC1 5640G > A and PSCA 5057C > T polymorphisms with the risk of gastric cancer in Northern Iran
Gastric cancer is one of the four most common cancer that causing death worldwide. Genome-Wide Association Studies (GWAS) have shown that genetic diversities MUC1 (Mucin 1) and PSCA (Prostate Stem Cell Antigen) g... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - July 13, 2020 Category: Genetics & Stem Cells Authors: Reza Alikhani, Ali Taravati and Mohammad Bagher Hashemi-Soteh Tags: Research article Source Type: research

Copy number variation of IL17RA gene and its association with the ankylosing spondylitis risk in Iranian patients: a case-control study
Ankylosing spondylitis (AS) is considered as a subtype of spondyloarthritis (SpA) that mainly leads to fatigue, stiffness, spinal ankylosis, and impaired physical functions with reduced quality of life. Interl... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - July 10, 2020 Category: Genetics & Stem Cells Authors: Hamideh Aghaei, Elham Farhadi, Maryam Akhtari, Sara Shahba, Shayan Mostafaei, Ahmadreza Jamshidi, Shiva Poursani, Mahdi Mahmoudi and Mohammad Hossein Nicknam Tags: Research article Source Type: research

APOE – a genetic marker of comorbidity in subjects with morbid obesity
This study explored associations between ... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - July 9, 2020 Category: Genetics & Stem Cells Authors: Per G. Farup, Helge Rootwelt and Knut Hestad Tags: Research article Source Type: research

Association analysis of polymorphisms rs12997 in ACVR1 and rs1043784 in BMP6 genes involved in bone morphogenic protein signaling pathway in primary angle-closure and pseudoexfoliation glaucoma patients of Saudi origin
Glaucoma is a polygenic neurodegenerative disease and the second most common cause of blindness in Saudi Arabia. To test the hypothesis that genetic variants in the genes involved in the bone morphogenic prote... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - July 8, 2020 Category: Genetics & Stem Cells Authors: Altaf A. Kondkar, Tahira Sultan, Taif A. Azad, Essam A. Osman, Faisal A. Almobarak and Saleh A. Al-Obeidan Tags: Research article Source Type: research

Whole-exome sequencing identifies a de novo PDE3A variant causing autosomal dominant hypertension with brachydactyly type E syndrome: a case report
Autosomal dominant hypertension with brachydactyly type E syndrome caused by pathogenic variants in the PDE3A gene was first reported in 2015. To date, there are only a few reports of this kind of syndrome. Other... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - July 6, 2020 Category: Genetics & Stem Cells Authors: Xianqing Li, Zongzhe Li, Peng Chen, Yan Wang, Dao Wen Wang and Dao Wu Wang Tags: Case report Source Type: research

Association of PIN3 16-bp duplication polymorphism of TP53 with breast cancer risk in Mali and a meta-analysis
Breast cancer, the most common tumor in women in Mali and worldwide has been linked to several risk factors, including genetic factors, such as the PIN3 16-bp duplication polymorphism of TP53. The aim of our stud... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - July 3, 2020 Category: Genetics & Stem Cells Authors: Brehima Diakite, Yaya Kassogue, Guimogo Dolo, Oumar Kassogue, Mamadou Lassine Keita, Brian Joyce, Erin Neuschler, Jun Wang, Jonah Musa, Cheick Bougari Traore, Bakarou Kamate, Etienne Dembele, Sellama Nadifi, Mercy Isichei, Jane L. Holl, Robert Murphy & he Tags: Research article Source Type: research

Association of interleukin 2, interleukin 12, and interferon- γ with intervertebral disc degeneration in Iranian population
Intervertebral disc degeneration (IVDD) is an age-related degenerative disease, presenting with low back pain or radicular pain. The inflammatory changes would occur in discs in the process of IVDD. Therefore,... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - July 3, 2020 Category: Genetics & Stem Cells Authors: Sara Hanaei, Sina Abdollahzade, Maryam Sadr, Mohammad Hossein Mirbolouk, Ehsan Fattahi, Alireza Khoshnevisan and Nima Rezaei Tags: Research article Source Type: research

A case of Turcot ’s syndrome type 1 with loss of immunoexpression of MSH6 in colon cancer and liver metastasis due to secondary somatic mutation in coding mononucleotide (C)8 tract: a case report
Lynch syndrome (LS), which is known as a hereditary cancer syndrome, is distinguished by microsatellite instability, represented by the altered number of repetitive sequences in the coding and/or non-coding re... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - July 1, 2020 Category: Genetics & Stem Cells Authors: Shintaro Akabane, Takao Hinoi, Kiwamu Akagi, Hideki Yamamoto, Haruki Sada, Yosuke Shimizu, Wataru Shimizu, Takeshi Sudo, Takashi Onoe, Kohei Ishiyama, Takahisa Suzuki, Hirofumi Tazawa, Naoto Hadano, Toshihiro Misumi, Masato Kojima, Haruna Kubota & hellip; Tags: Case report Source Type: research

A novel VPS13B mutation in Cohen syndrome: a case report and review of literature
Cohen syndrome, an autosomal recessive syndrome, is a rare syndrome with diverse clinical manifestations including failure to thrive, hypotonia, hypermobile joints, microcephaly, intellectual disabilities, cra... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - June 30, 2020 Category: Genetics & Stem Cells Authors: Sara Momtazmanesh, Elham Rayzan, Sepideh Shahkarami, Meino Rohlfs, Christoph Klein and Nima Rezaei Tags: Case report Source Type: research

A novel stop-gain mutation in DPYS gene causing Dihidropyrimidinase deficiency, a case report
Dihidropyrimidinase (DHP) deficiency is an inherited inborn error of pyrimidine metabolism with a variable clinical presentation and even asymptomatic subjects. Dihydropyrimidinase is encoded by the DPYS gene, th... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - June 29, 2020 Category: Genetics & Stem Cells Authors: Malihe Mirzaei, Arghavan Kavosi, Mahboobeh Sharifzadeh, Ghazale Mahjoub, Mohammad Ali Faghihi, Parham Habibzadeh and Majid Yavarian Tags: Case report Source Type: research

Role of TSP-1 as prognostic marker in various cancers: a systematic review and meta-analysis
Published studies present conflicting data regarding the impact of Thrombospondin-1 (TSP-1) expression on prognosis of various cancers. We performed this meta-analysis to illustrate the preliminary predictive ... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - June 29, 2020 Category: Genetics & Stem Cells Authors: Shengjie Sun, Huiyu Dong, Tao Yan, Junchen Li, Bianjiang Liu, Pengfei Shao, Jie Li and Chao Liang Tags: Research article Source Type: research

First phenotypic description of a female patient with c.610  T > C variant of GLA: a renal-predominant presentation of Fabry disease
Fabry disease (FD) is an X-linked lysosomal storage disorder due to deficient alpha-galactosidase activity leading to intracellular glycosphingolipid accumulation. Multiple variants have been reported in the GLA ... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - June 26, 2020 Category: Genetics & Stem Cells Authors: Sophie Greillier, Laurent Daniel, Catherine Caillaud, Bertrand Dussol, Guy Touchard, Jean-Michel Goujon, No émie Jourde-Chiche and Mickaël Bobot Tags: Case report Source Type: research

KIAA1109 gene mutation in surviving patients with Alkuraya-Ku činskas syndrome: a review of literature
Alkuraya-Ku činskas syndrome is an autosomal recessive disorder characterized by brain abnormalities associated with cerebral parenchymal underdevelopment, arthrogryposis, club foot and global developmental del... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - June 26, 2020 Category: Genetics & Stem Cells Authors: Kishore Kumar, Anikha Bellad, Pramada Prasad, Satish Chandra Girimaji and Babylakshmi Muthusamy Tags: Research article Source Type: research

Ancestry effects on type 2 diabetes genetic risk inference in Hispanic/Latino populations
Hispanic/Latino (HL) populations bear a disproportionately high burden of type 2 diabetes (T2D). The ability to predict T2D genetic risk using polygenic risk scores (PRS) offers great promise for improved scre... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - June 25, 2020 Category: Genetics & Stem Cells Authors: Aroon T. Chande, Lavanya Rishishwar, Andrew B. Conley, Augusto Valderrama-Aguirre, Miguel A. Medina-Rivas and I. King Jordan Tags: Research Source Type: research

Two novel compound heterozygous mutations in NGLY1as a cause of congenital disorder of deglycosylation: a case presentation
NGLY1-related congenital disorder of deglycosylation (NGLY1-CDDG) is a multisystemic neurodevelopmental disorder in which affected individuals show developmental delay, epilepsy, intellectual disability, abnor... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - June 23, 2020 Category: Genetics & Stem Cells Authors: Haixia Ge, Qingbin Wu, Huigang Lu, Yong Huang, Tingting Zhou, Danlin Tan and ZhongqinJin Tags: Case report Source Type: research

MiRNA155HG polymorphisms influenced the risk of liver cancer among the Han Chinese population
Liver cancer is one of the most common cancers in the world. The primary aim of this research was to discover the correlation between single nucleotide polymorphisms (SNPs) of the MIR155HG and liver cancer risk. (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - June 19, 2020 Category: Genetics & Stem Cells Authors: Xu Chao, Xuesong Feng, Xiaoping Wang, Hailong Shi, Hong Li, Yuewen Wang, Lanlan Wang, Haiyu Shen, Qing Zha and Yanni Chen Tags: Research article Source Type: research

Mutation analysis of 419 family and prenatal diagnosis of 339 cases of spinal muscular atrophy in China
Spinal muscular atrophy (SMA) is a common and lethal autosomal recessive neurodegenerative disease caused by mutations in the survival motor neuron 1 (SMN1) gene. At present, gene therapy medicine for SMA, i.e... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - June 18, 2020 Category: Genetics & Stem Cells Authors: Yingjie Sun, Xiangdong Kong, Zhenhua Zhao and Xuechao Zhao Tags: Research article Source Type: research

Clinical characteristics and prenatal diagnosis for 22 families in Henan Province of China with X-linked agammaglobulinemia (XLA) related to Bruton ’s tyrosine kinase (BTK) gene mutations
X-linked agammaglobulinaemia (XLA) is a rare immunodeficiency disease for which recurrent severe infection is the major clinical symptom. BTK is the main causative gene, with X chromosome recessive inheritance. H... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - June 17, 2020 Category: Genetics & Stem Cells Authors: Shanshan Gao, Shuang Hu, Huikun Duan, Li Wang and Xiangdong Kong Tags: Research article Source Type: research

Clinical significance and biological mechanisms of glutathione S-transferase mu gene family in colon adenocarcinoma
Colon adenocarcinoma (COAD) is the most common form of colon cancer. The glutathione S-transferase Mu (GSTM) gene belongs to the GST gene family, which functions in cell metabolism and detoxification. The relatio... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - June 15, 2020 Category: Genetics & Stem Cells Authors: Erna Guo, Haotang Wei, Xiwen Liao, Liuyu Wu and Xiaoyun Zeng Tags: Research article Source Type: research

Genetic variants of VDR and CYP2R1 affect BMI independently of serum vitamin D concentrations
Vitamin D metabolism and obesity have been linked by several studies, however the reason for this association is unclear. Our objective was to investigate potential correlations between genetic variants in key... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - June 13, 2020 Category: Genetics & Stem Cells Authors: Bence Bakos, Bal ázs Szili, Boglárka Szabó, Péter Horváth, Gyöngyi Kirschner, János P. Kósa, Erzsébet Toldy, Péter Lakatos, Ádám G. Tabák and István Takács Tags: Research article Source Type: research

Genotype-phenotype variable correlation in Wilson disease: clinical history of two sisters with the similar genotype
Wilson disease (WD) is an Autosomal-Recessive disorder due to mutations of ATP7B gene on chromosome 13q14.3. Inadequate protein function leads to low ceruloplasmin blood levels and copper accumulation in liver, b... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - June 12, 2020 Category: Genetics & Stem Cells Authors: Annamaria Sapuppo, Piero Pavone, Andrea Domenico Pratic ò, Martino Ruggieri, Gaetano Bertino and Agata Fiumara Tags: Case report Source Type: research

A novel pathogenic variant in the LRTOMT gene causes autosomal recessive non-syndromic hearing loss in an Iranian family
Hearing loss (HL) is the most common sensorineural disorder with high phenotypic and genotypic heterogeneity, which negatively affects life quality. Autosomal recessive non-syndromic hearing loss (ARNSHL) cons... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - June 9, 2020 Category: Genetics & Stem Cells Authors: Akram Sarmadi, Samane Nasrniya, Maryam Soleimani Farsani, Sina Narrei, Zahra Nouri, Mahsa Sepehrnejad, Mohammad Hussein Nilforoush, Hamidreza Abtahi and Mohammad Amin Tabatabaiefar Tags: Research article Source Type: research

A Chinese case of Nakajo –Nishimura syndrome with novel compound heterozygous mutations of the PSMB8 gene
Nakajo-Nishimura syndrome (NNS) is an autosomal recessive heredity disorder, one of a spectrum of autoinflammatory diseases named proteasome-associated autoinflammatory syndrome (PRAAS) caused by mutations of PSM... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - June 8, 2020 Category: Genetics & Stem Cells Authors: Tao Jia, Yi Zheng, Cheng Feng, Tielin Yang and Songmei Geng Tags: Case report Source Type: research

Identification of a novel WAS mutation in a South African patient presenting with atypical Wiskott-Aldrich syndrome: a case report
The X-linked recessive primary immunodeficiency disease (PIDD) Wiskott-Aldrich syndrome (WAS) is identified by an extreme susceptibility to infections, eczema and thrombocytopenia with microplatelets. The synd... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - June 5, 2020 Category: Genetics & Stem Cells Authors: Brigitte Glanzmann, Marlo M öller, Mardelle Schoeman, Michael Urban, Paul D. van Helden, Lisa Frigati, Ravnit Grewal, Hermanus Pieters, Ben Loos, Eileen G. Hoal, Richard H. Glashoff, Helena Cornelissen, Helena Rabie, Monika M. Esser and Craig J. Kinnear Tags: Case report Source Type: research

Identifying genetic variants and pathways associated with extreme levels of fetal hemoglobin in sickle cell disease in Tanzania
Sickle cell disease (SCD) is a blood disorder caused by a point mutation on the beta globin gene resulting in the synthesis of abnormal hemoglobin. Fetal hemoglobin (HbF) reduces disease severity, but the leve... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - June 5, 2020 Category: Genetics & Stem Cells Authors: Siana Nkya, Liberata Mwita, Josephine Mgaya, Happiness Kumburu, Marco van Zwetselaar, Stephan Menzel, Gaston Kuzamunu Mazandu, Raphael Sangeda, Emile Chimusa and Julie Makani Tags: Research article Source Type: research

Osteoprotegerin gene polymorphisms and otosclerosis: an additional genetic association study, multilocus interaction and meta-analysis
Otosclerosis (OTSC) is among the most common causes of a late-onset hearing loss in adults and is characterized by an abnormal bone growth in the otic capsule. Alteration in the osteoprotegerin (OPG) expressio... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - June 3, 2020 Category: Genetics & Stem Cells Authors: Amal Bouzid, Adel Tekari, Fida Jbeli, Amine Chakroun, Kirtal Hansdah, Amal Souissi, Neha Singh, Mohamed Ali Mosrati, Imen Achour, Abdelmonem Ghorbel, Ilhem Charfeddine, Puppala Venkat Ramchander and Saber Masmoudi Tags: Research article Source Type: research

A novel SPAST gene mutation identified in a Chinese family with hereditary spastic paraplegia
Hereditary spastic paraplegia is a heterogeneous group of clinically and genetically neurodegenerative diseases characterized by progressive gait disorder. Hereditary spastic paraplegia can be inherited in var... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - June 3, 2020 Category: Genetics & Stem Cells Authors: Weiwei Yu, Haiqiang Jin, Jianwen Deng, Ding Nan and Yining Huang Tags: Research article Source Type: research

The pregnancy-associated spontaneous coronary artery dissection in a young woman with a novel missense mutation in NOTCH1: a case report
Spontaneous coronary artery dissection (SCAD) is frequently reported as a disorder that primarily affects women without risk factors for cardiovascular disease. Although it has been recognized as one of the ge... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - June 1, 2020 Category: Genetics & Stem Cells Authors: Bo Bai, Meng Zhang, Yihao Zhuang, Jirong Zhu, Wenjing Li, Wei Ma and Haibo Chen Tags: Case report Source Type: research

Identification of ATP2C1 mutations in the patients of Hailey-Hailey disease
Familial benign chronic pemphigus, also known as Hailey-Hailey disease (HHD), is a clinically rare bullous Dermatosis. However the mechanism has not been clarified. The study aim to detect novel mutations in e... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - June 1, 2020 Category: Genetics & Stem Cells Authors: Xiaoli Li, Dingwei Zhang, Jiahui Ding, Li Li and Zhenghui Wang Tags: Research article Source Type: research

A novel mutation in TRIOBP gene leading to congenital deafness in a Chinese family
The autosomal recessive non-syndromic deafness DFNB28 is characterized by prelingual sensorineural hearing loss. The disease is related with mutations in TRIOBP (Trio- and F-actin-Binding Protein) gene, which has... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - June 1, 2020 Category: Genetics & Stem Cells Authors: Bingxin Zhou, Lili Yu, Yan Wang, Wenjing Shang, Yi Xie, Xiong Wang and Fengchan Han Tags: Research article Source Type: research

A novel deletion variant in TRAPPC2 causes spondyloepiphyseal dysplasia tarda in a five-generation Chinese family
Spondyloepiphyseal dysplasia tarda (SEDT) is a rare X-linked recessive inherited osteochondrodysplasia caused by mutations in the TRAPPC2 gene. It is clinically characterized by disproportionate short stature and... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - May 29, 2020 Category: Genetics & Stem Cells Authors: Cai Zhang, Caiqi Du, Juan Ye, Feng Ye, Renfa Wang, Xiaoping Luo and Yan Liang Tags: Research article Source Type: research

Identification of a novel SDHB c.563  T  >  C mutation responsible for Paraganglioma syndrome and genetic analysis of the SDHB gene in China: a case report
Pheochromocytoma/paraganglioma (PPGL) is a rare neuroendocrine tumor. Succinate dehydrogenase (SDH) deficiency has been confirmed to be associated with PPGL in various studies. SDHB mutations play an important... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - May 27, 2020 Category: Genetics & Stem Cells Authors: Heye Chen, Wei Yao, Qing He, Xuefang Yu and Bo Bian Tags: Case report Source Type: research

The association between genetic variants in lactotransferrin and dental caries: a meta- and gene-based analysis
The pathogenesis of dental caries remains unclear, with increasing evidence suggesting that genetic susceptibility plays an essential role. Previous studies have reported the association between genetic polymo... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - May 27, 2020 Category: Genetics & Stem Cells Authors: Xueyan Li, Yi Su, Di Liu and Jingyun Yang Tags: Research article Source Type: research

A novel COMP mutation in a Chinese family with multiple epiphyseal dysplasia
Multiple epiphyseal dysplasia (MED) is a skeletal disorder characterized by delayed and irregular ossification of the epiphyses and early-onset osteoarthritis. At least 66% of the reported autosomal dominant M... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - May 27, 2020 Category: Genetics & Stem Cells Authors: Jiashen Shao, Sen Zhao, Zihui Yan, Lianlei Wang, Yuanqiang Zhang, Mao Lin, Chenxi Yu, Shengru Wang, Yuchen Niu, Xiaoxin Li, Guixing Qiu, Jianguo Zhang, Zhihong Wu and Nan Wu Tags: Research article Source Type: research

Genetic variation in toll like receptors 2, 7, 9 and interleukin-6 is associated with cytomegalovirus infection in late pregnancy
Maternal cytomegalovirus (CMV) infection and/or reactivation in pregnancy is associated with a myriad of adverse infant outcomes. However, the role of host genetic polymorphisms in modulating maternal CMV stat... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - May 25, 2020 Category: Genetics & Stem Cells Authors: Doreen Z. Mhandire, Kudakwashe Mhandire, Mulalo Magadze, Ambroise Wonkam, Andre P. Kengne and Collet Dandara Tags: Research article Source Type: research

The mutational spectrum of hunter syndrome reveals correlation between biochemical and clinical profiles in Tunisian patients
Mucopolysaccharidosis type II (MPS II) or Hunter syndrome is an X-linked recessive lysosomal storage disorder resulting from deficient activity of iduronate 2-sulfatase (IDS) and the progressive lysosomal accu... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - May 24, 2020 Category: Genetics & Stem Cells Authors: L Chkioua, O Grissa, N Leban, M Gribaa, H Boudabous, H Ben Turkia, S Ferchichi, N Tebib and S Laradi Tags: Research article Source Type: research

A novel ultra-sensitive method for the detection of FGFR3 mutations in urine of bladder cancer patients – Design of the Urodiag® PCR kit for surveillance of patients with non-muscle-invasive bladder cancer (NMIBC)
We have recently developed a highly accurate urine-based test, named Urodiag ®, associating FGFR3 mutation and DNA methylation assays for recurrence surveillance in patients with low-, intermediate-, and high-risk... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - May 24, 2020 Category: Genetics & Stem Cells Authors: Jean-Pierre Roperch and Claude Hennion Tags: Technical advance Source Type: research

Association of preeclampsia with infant APOL1 genotype in African Americans
Black women in the United States and Africa are at an increased risk for preeclampsia. Allelic variants in the gene for apolipoprotein LI, APOL1, are found only in populations of African ancestry, and have been s... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - May 20, 2020 Category: Genetics & Stem Cells Authors: Anna K. Miller, Timur Azhibekov, John F. O ’Toole, John R. Sedor, Scott M. Williams, Raymond W. Redline and Leslie A. Bruggeman Tags: Research article Source Type: research

LARS2-Perrault syndrome: a new case report and literature review
Perrault syndrome is a rare recessive and genetically heterogeneous disorder characterized by sensorineural hearing loss in males and females and gonadal dysgenesis in females. Mutations in seven different gen... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - May 18, 2020 Category: Genetics & Stem Cells Authors: Maria Teresa Carminho-Rodrigues, Phillipe Klee, Sacha Laurent, Michel Guipponi, Marc Abramowicz, H élène Cao-van, Nils Guinand and Ariane Paoloni-Giacobino Tags: Case report Source Type: research

Associations of mitochondrial DNA 3777 –4679 region mutations with maternally inherited essential hypertensive subjects in China
Nuclear genome or family mitochondrial screening system has become the hot focus of studies into essential hypertension. The role of mitochondrial DNA (mtDNA) in sporadic Chinese patients with hypertension has... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - May 15, 2020 Category: Genetics & Stem Cells Authors: Ye Zhu, Jia You, Chao Xu and Xiang Gu Tags: Research article Source Type: research

Quantitative phenotype scan statistic (QPSS) reveals rare variant associations with Alzheimer ’s disease endophenotypes
Current sequencing technologies have provided for a more comprehensive genome-wide assessment and have increased genotyping accuracy of rare variants. Scan statistic approaches have previously been adapted to ... (Source: BMC Medical Genetics)
Source: BMC Medical Genetics - May 15, 2020 Category: Genetics & Stem Cells Authors: Yuriko Katsumata and David W. Fardo Tags: Software Source Type: research