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    1764 results match your criteria BMC Medical Genetics [Journal]

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    Mosaicism of the UDP-Galactose transporter SLC35A2 in a female causing a congenital disorder of glycosylation: a case report.
    BMC Med Genet 2018 Jun 15;19(1):100. Epub 2018 Jun 15.
    Division of Genetics & Metabolism, Department of Pediatrics and Ophthalmology, 2450 Riverside Avenue, Minneapolis, MN, 55454, USA.
    Background: Congenital disorders of glycosylation are rare conditions caused by genetic defects in glycan synthesis, processing or transport. Most congenital disorders of glycosylation involve defects in the formation or transfer of the lipid-linked oligosaccharide precursor of N-linked glycans. SLC35A2-CDG (previously CDG-IIm) is caused by hemizygous or heterozygous mutations in the X-linked gene SLC35A2 that encodes a UDP-galactose transporter. Read More

    A novel homozygous variant of GPR98 causes usher syndrome type IIC in a consanguineous Chinese family by next generation sequencing.
    BMC Med Genet 2018 Jun 11;19(1):99. Epub 2018 Jun 11.
    State Key Laboratory of Quality Research in Chinese Medicine, Macau Institute For Applied Research in Medicine and Health, Macau University of Science and Technology, Taipa, Macao, Special Administrative Region of China.
    Background: Usher syndrome (USH) is a common heterogeneous retinopathy and a hearing loss (HL) syndrome. However, the gene causing Usher syndrome type IIC (USH2C) in a consanguineous Chinese pedigree is unknown.

    Methods: We performed targeted next-generation sequencing analysis and Sanger sequencing to explore the GPR98 mutations in a USH2C pedigree that included a 32-year-old male patient from a consanguineous marriage family. Read More

    A systematic review and meta-analyses of the relationship between glutathione S-transferase gene polymorphisms and renal cell carcinoma susceptibility.
    BMC Med Genet 2018 Jun 8;19(1):98. Epub 2018 Jun 8.
    Department of Nephrology, the Second Affiliated Hospital of Shantou University Medical College, No. 69 Dongsha Road, Shantou, 515041, China.
    Background: Association of GSTM1- and GSTT1-null genotypes, GSTP1 A/G gene polymorphism with renal cell carcinoma (RCC) susceptibility was detected, and the relationship between the GSTM1/GSTT1-null genotype and clinical TNM stages of RCC was assessed, using meta-analysis method.

    Methods: Association investigations according to eligibility criteria were searched and identified from the databases of Cochrane Library, PubMed, and Embase from establishment time of databases to July 1, 2017, and eligible reports were analyzed by meta-analysis. 95% confidence intervals (CI) were also detected, and odds ratios (OR) was used to express the results for dichotomous data. Read More

    PHACTR1 splicing isoforms and eQTLs in atherosclerosis-relevant human cells.
    BMC Med Genet 2018 Jun 8;19(1):97. Epub 2018 Jun 8.
    Montreal Heart Institute, 5000 Bélanger Street, Montréal, Québec, H1T 1C8, Canada.
    Background: Genome-wide association studies (GWAS) have identified a variant (rs9349379) at the phosphatase and actin regulator 1 (PHACTR1) locus that is associated with coronary artery disease (CAD). The same variant is also an expression quantitative trait locus (eQTL) for PHACTR1 in human coronary arteries (hCA). Here, we sought to characterize PHACTR1 splicing pattern in atherosclerosis-relevant human cells. Read More

    Common variant of BCAS3 is associated with gout risk in Japanese population: the first replication study after gout GWAS in Han Chinese.
    BMC Med Genet 2018 Jun 7;19(1):96. Epub 2018 Jun 7.
    Department of Integrative Physiology and Bio-Nano Medicine, National Defense Medical College, 3-2 Namiki, Tokorozawa, Saitama, 359-8513, Japan.
    Background: Gout is a common disease resulting from hyperuricemia which causes acute arthritis. A recent genome-wide association study (GWAS) of gout identified three new loci for gout in Han Chinese: regulatory factor X3 (RFX3), potassium voltage-gated channel subfamily Q member 1 (KCNQ1), and breast carcinoma amplified sequence 3 (BCAS3). The lack of any replication studies of these three loci using other population groups prompted us to perform a replication study with Japanese clinically defined gout cases and controls. Read More

    Exome sequencing identifies novel dysferlin mutation in a family with pauci-symptomatic heterozygous carriers.
    BMC Med Genet 2018 Jun 7;19(1):95. Epub 2018 Jun 7.
    South African National Bioinformatics Institute, University of the Western Cape, Private Bag X17, Bellville, 7535, South Africa.
    Background: We investigated a South African family of admixed ancestry in which the first generation (G1) developed insidious progressive distal to proximal weakness in their twenties, while their offspring (G2) experienced severe unexpected symptoms of myalgia and cramps since adolescence. Our aim was to identify deleterious mutations that segregate with the affected individuals in this family.

    Methods: Exome sequencing was performed on five cases, which included three affected G1 siblings and two pauci-symptomatic G2 offspring. Read More

    Rapid and effective response of the R222Q SCN5A to quinidine treatment in a patient with Purkinje-related ventricular arrhythmia and familial dilated cardiomyopathy: a case report.
    BMC Med Genet 2018 Jun 5;19(1):94. Epub 2018 Jun 5.
    Department of Arrhythmia, Institute of Cardiology, ul. Alpejska 42, 04-628, Warszawa, Poland.
    Background: Mutations of the SCN5A gene are reported in 2-4% of patients with dilated cardiomyopathy (DCM). In such cases, DCM is associated with different rhythm disturbances such as the multifocal ectopic Purkinje-related premature contractions and atrial fibrillation. Arrhythmia often occurs at a young age and is the first symptom of heart disease. Read More

    Impact of KCNQ1, CDKN2A/2B, CDKAL1, HHEX, MTNR1B, SLC30A8, TCF7L2, and UBE2E2 on risk of developing type 2 diabetes in Thai population.
    BMC Med Genet 2018 Jun 5;19(1):93. Epub 2018 Jun 5.
    Department of Immunology, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
    Background: Several type 2 diabetes (T2D) susceptibility loci identified via genome-wide association studies were found to be replicated among various populations. However, the influence of these loci on T2D in Thai population is unknown. The aim of this study was to investigate the influence of eight single nucleotide polymorphisms (SNPs) reported in GWA studies on T2D and related quantitative traits in Thai population. Read More

    Chinese cases of early infantile epileptic encephalopathy: a novel mutation in the PCDH19 gene was proved in a mosaic male- case report.
    BMC Med Genet 2018 Jun 4;19(1):92. Epub 2018 Jun 4.
    Department of Pediatrics, The Affiliated Hospital of Qingdao University, No. 59, Haier Road, Qingdao, 266000, China.
    Background: The link between the protocadherin-19 (PCDH19) gene and epilepsy suggests that an unusual form of X-linked inheritance affects females but is transmitted through asymptomatic males. Individuals with epilepsy associated with mutations in the PCDH19 gene display generalized or focal seizures with or without fever sensitivity. The clinical manifestation of the condition ranges from mild to severe, resulting in intellectual disability and behavioural disturbance. Read More

    An inherited FGFR2 mutation increased osteogenesis gene expression and result in Crouzon syndrome.
    BMC Med Genet 2018 May 30;19(1):91. Epub 2018 May 30.
    Department of Ophthalmology, Ninth People's Hospital, Shanghai JiaoTong University School of Medicine, Shanghai, People's Republic of China.
    Background: FGFR2 encodes a fibroblast growth factor receptor whose mutations are responsible for the Crouzon syndrome, involving craniosynostosis and facial dysostosis with shallow orbits. However, few reports are available quantifying the orbital volume of Crouzon syndrome and there was little direct evidence to show FGFR2 mutation actually influencing orbital morphology.

    Methods: Ten Crouzon syndrome patients underwent a standard ophthalmologic assessment. Read More

    Clinical and genetic characteristics of pulmonary arterial hypertension in Lebanon.
    BMC Med Genet 2018 May 30;19(1):89. Epub 2018 May 30.
    Department of Internal Medicine, Faculty of Medicine, American University of Beirut, P.O.Box: 11-0236, Beirut, Lebanon.
    Background: Pulmonary arterial hypertension (PAH) is a rare disease with an incidence rate of 2-6 cases per million per year. Our knowledge of the disease in the Middle East and North Africa (MENA) region is limited by the small number of clinical studies and the complete absence of genetic studies.

    Methods: Our aim was to shed light on the clinical and genetic characteristics of PAH in Lebanon and the region by using exome sequencing on PAH patients referred to the American University of Beirut Medical Center (AUBMC). Read More

    A novel TSC2 missense variant associated with a variable phenotype of tuberous sclerosis complex: case report of a Chinese family.
    BMC Med Genet 2018 May 30;19(1):90. Epub 2018 May 30.
    Institute of Pediatrics, Children's Hospital of Fudan University, Shanghai, People's Republic of China.
    Background: Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by the development of hamartomas in multiple organs, including the brain, heart, skin, kidney, lung and retina. A diagnosis of TSC is established with a recently revised clinical/radiological set of criteria and/or a causative mutation in TSC1 or TSC2 gene.

    Case Presentation: We report a Chinese TSC family with two siblings presenting with multiple hypomelanotic macules, cardiac rhabdomyomas and cortical tubers associated with a small subependymal nodule. Read More

    Clinical and genetic characterization of a Chanarin Dorfman Syndrome patient born to diseased parents.
    BMC Med Genet 2018 May 29;19(1):88. Epub 2018 May 29.
    Laboratory of Cellular Biochemistry and Molecular Biology-CRIBENS, Catholic University of the Sacred Heart, pz Buonarroti 30, 20145, Milan, Italy.
    Background: Chanarin Dorfman Syndrome (CDS) is a rare autosomal recessive disorder characterized by ichthyosiform non-bullous erythroderma and variable involvement of the liver and the neuromuscular system. In CDS patients, the accumulation of neutral lipids inside cytoplasmic lipid droplets has been demonstrated in different tissues. To date, ninety families with this disease have been described worldwide; most of them are from Mediterranean countries. Read More

    Splicing defect in FKBP10 gene causes autosomal recessive osteogenesis imperfecta disease: a case report.
    BMC Med Genet 2018 May 25;19(1):86. Epub 2018 May 25.
    Persian BayanGene Research and Training Center, Dr. Faghihi's Medical Genetics Center, Shiraz, Iran.
    Background: Osteogenesis imperfecta (OI) is a group of connective tissue disorder caused by mutations of genes involved in the production of collagen and its supporting proteins. Although the majority of reported OI variants are in COL1A1 and COL1A2 genes, recent reports have shown problems in other non-collagenous genes involved in the post translational modifications, folding and transport, transcription and proliferation of osteoblasts, bone mineralization, and cell signaling. Up to now, 17 types of OI have been reported in which types I to IV are the most frequent cases with autosomal dominant pattern of inheritance. Read More

    Dyskeratosis congenita with a novel genetic variant in the DKC1 gene: a case report.
    BMC Med Genet 2018 May 25;19(1):85. Epub 2018 May 25.
    Human Genetics Unit, Faculty of Medicine, University of Colombo, Kynsey Road, Colombo 8, Sri Lanka.
    Background: Dyskeratosis congenita (DC) is a rare genetic disorder of bone marrow failure inherited in an X-linked, autosomal dominant or autosomal recessive pattern. It has a wide array of clinical features and patients may be cared for by many medical sub specialties. The typical clinical features consist of lacy reticular skin pigmentation, nail dystrophy and oral leukoplakia. Read More

    The genetic basis of hyaline fibromatosis syndrome in patients from a consanguineous background: a case series.
    BMC Med Genet 2018 May 25;19(1):87. Epub 2018 May 25.
    Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, 233 S. 10th Street, Suite 450 BLSB, Philadelphia, PA, 19107, USA.
    Background: Hyaline fibromatosis syndrome (HFS) is a rare heritable multi-systemic disorder with significant dermatologic manifestations. It is caused by mutations in ANTXR2, which encodes a transmembrane receptor involved in collagen VI regulation in the extracellular matrix. Over 40 mutations in the ANTXR2 gene have been associated with cases of HFS. Read More

    Analysis of the PvuII and XbaI polymorphisms in the estrogen receptor alpha gene in girls with central precocious puberty: a pilot study.
    BMC Med Genet 2018 May 25;19(1):84. Epub 2018 May 25.
    Disciplina de Ginecologia, Departamento de Obstetrícia e Ginecologia, Hospital das Clínicas, Faculdade de Medicina da USP, Av. Dr. Eneas de Carvalho Aguiar, 255 - Predio do Instituto Central, 10 andar, sala 10167, São Paulo, 05403-000, Brazil.
    Background: Precocious puberty (PP) is defined as premature pubertal development. Its consequences surpass the physical evidence of sexual maturity with the premature epiphyseal closure of the long bones and the reduction of adult stature by varied degrees. Central PP is characteristically dependent on GnRH and most of its causes are not completely known. Read More

    Exploration of the association between FOXE1 gene polymorphism and differentiated thyroid cancer: a meta-analysis.
    BMC Med Genet 2018 May 22;19(1):83. Epub 2018 May 22.
    Department of Nuclear Medicine, Peking Union Medical College (PUMC) Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100730, China.
    Background: Several association analyses and linkage researches indicated that inherited genetic variations effectively influence differentiated thyroid carcinogenesis.

    Methods: The results from 15 published studies on differentiated thyroid carcinoma (DTC) were combined. The genetic model included rs965513, rs944289 and rs1867277. Read More

    Identification of a novel nonsense mutation in the UNC13D gene from a patient with hemophagocytic lymphohistiocytosis: a case report.
    BMC Med Genet 2018 May 21;19(1):82. Epub 2018 May 21.
    School of Nursing, Zhengzhou University, Zhengzhou, 450052, Henan, China.
    Background: Hemophagocytic lymphohistiocytosis (HLH) is a heterogeneous and potentially fatal disease that presents symptoms of persistent fever, splenomegaly and cytopenia. Primary HLH is identified as an autosomal recessive disorder with causative genes including HPLH1, PRF1, UNC13D, STX11 and STXBP2.

    Case Presentation: Here, we reported an 8-month-old female patient with compound heterozygosity in the UNC13D gene. Read More

    The conserved p.Arg108 residue in S1PR2 (DFNB68) is fundamental for proper hearing: evidence from a consanguineous Iranian family.
    BMC Med Genet 2018 May 18;19(1):81. Epub 2018 May 18.
    Institute of Human Genetics, Julius Maximilians University, Würzburg, Germany.
    Background: Genetic heterogeneity and consanguineous marriages make recessive inherited hearing loss in Iran the second most common genetic disorder. Only two reported pathogenic variants (c.323G>C, p. Read More

    Cortical atrophy and hypofibrinogenemia due to FGG and TBCD mutations in a single family: a case report.
    BMC Med Genet 2018 May 16;19(1):80. Epub 2018 May 16.
    Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
    Background: Blended phenotypes or co-occurrence of independent phenotypically distinct conditions are extremely rare and are due to coincidence of multiple pathogenic mutations, especially due to consanguinity. Hereditary fibrinogen deficiencies result from mutations in the genes FGA, FGB, and FGG, encoding the three different polypeptide chains that comprise fibrinogen. Neurodevelopmental abnormalities have not been associated with fibrinogen deficiencies. Read More

    Novel aggrecan variant, p. Gln2364Pro, causes severe familial nonsyndromic adult short stature and poor growth hormone response in Chinese children.
    BMC Med Genet 2018 May 16;19(1):79. Epub 2018 May 16.
    Department of Pediatric Endocrinology and Inherited Metabolic Diseases, Children's Hospital of Fudan University, 399 Wan Yuan Road, Minhang District, Shanghai, 201102, China.
    Background: Mutations in the aggrecan (ACAN) gene can cause short stature (with heterogeneous clinical phenotypes), impaired bone maturation, and large variations in response to growth hormone (GH) treatment. For such cases, long-term longitudinal therapy data from China are still scarce. We report that a previously unknown ACAN gene variant reduces adult height and we analyze the GH response in children from an affected large Chinese family. Read More

    Genome-wide association study identified ATP6V1H locus influencing cerebrospinal fluid BACE activity.
    BMC Med Genet 2018 May 11;19(1):75. Epub 2018 May 11.
    Department of Neurology, Qingdao Municipal Hospital, School of Medicine, Qingdao University, No.5 Donghai Middle Road, Qingdao, 266071, Shandong Province, China.
    Background: The activity of cerebrospinal fluid (CSF) β-site APP cleaving enzyme (BACE) is a potential diagnostic biomarker for Alzheimer disease (AD).

    Methods: A total of 340 non-Hispanic Caucasian participants from the Alzheimer's Disease Neuroimaging Initiative cohort (ADNI) database were included in this study with quality-controlled CSF BACE and genotype data. Association of CSF BACE with the genetic variants of single nucleotide polymorphisms (SNPs) was assessed using PLINK under the additive genetic model. Read More

    Possible association between ABCC8 C49620T polymorphism and type 2 diabetes in a Nigerian population.
    BMC Med Genet 2018 May 12;19(1):78. Epub 2018 May 12.
    Department of Biotechnology, Ebonyi State University, P.M.B. 53, Abakaliki, Nigeria.
    Background: The association between ABCC8 gene C49620T polymorphism and type 2 diabetes (T2D) in populations of diverse ethnic backgrounds has been reported. However, such occurrence in an African population is yet to be established. This case-control study involving 73 T2D and 75 non-diabetic (ND) patients investigated the occurrence of this polymorphism among T2D patients in Nigeria and assessed its relationship with body lipids of patients. Read More

    A case of Raine syndrome presenting with facial dysmorphy and review of literature.
    BMC Med Genet 2018 May 11;19(1):76. Epub 2018 May 11.
    FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, 380015, India.
    Background: Raine syndrome (RS) - an extremely rare autosomal recessive genetic disorder, is caused by a biallelic mutation in the FAM20C gene. Some of the most common clinical features include generalized osteosclerosis with a periosteal bone formation, dysmorphic face, and thoracic hypoplasia. Many cases have also been reported with oro-dental abnormalities, and developmental delay. Read More

    Next-generation sequencing reveals a new mutation in the LTBP2 gene associated with microspherophakia in a Spanish family.
    BMC Med Genet 2018 May 11;19(1):77. Epub 2018 May 11.
    Department Genetics, Hospital de la Santa Creu i Sant Pau, Pare Claret, 167, 08025, Barcelona, Spain.
    Background: Microspherophakia is a rare autosomal recessive eye disorder characterized by small spherical lens. It may present as an isolated finding or in association with other ocular and/or systemic disorders. This clinical and genetic heterogeneity requires the study of large genes (ADAMTSL4, FBN1, LTBP2, ADAMTSL-10 and ADAMTSL17). Read More

    Classical fragile-X phenotype in a female infant disclosed by comprehensive genomic studies.
    BMC Med Genet 2018 May 10;19(1):74. Epub 2018 May 10.
    Unit for Multidisciplinary Research in Biomedicine, Abel Salazar Institute of Biomedical Sciences, University of Porto - UMIB-ICBAS-UP, Porto, Portugal.
    Background: We describe a female infant with Fragile-X syndrome, with a fully expanded FMR1 allele and preferential inactivation of the homologous X-chromosome carrying a de novo deletion. This unusual and rare case demonstrates the importance of a detailed genomic approach, the absence of which could be misguiding, and calls for reflection on the current clinical and diagnostic workup for developmental disabilities.

    Case Presentation: We present a female infant, referred for genetic testing due to psychomotor developmental delay without specific dysmorphic features or relevant family history. Read More

    Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family.
    BMC Med Genet 2018 May 8;19(1):72. Epub 2018 May 8.
    Institut du Cerveau et de la Moelle épinière, INSERM U1127, CNRS UMR7225, Sorbonne Universités, UPMC Université Paris VI UMR_S1127, 75013, Paris, France.
    Background: Infantile neuroaxonal dystrophy (INAD) is a rare hereditary neurological disorder caused by mutations in PLA2G6. The disease commonly affects children below 3 years of age and presents with delay in motor skills, optic atrophy and progressive spastic tetraparesis. Studies of INAD in Africa are extremely rare, and genetic studies from Sub Saharan Africa are almost non-existent. Read More

    Genome-wide association studies for diabetic macular edema and proliferative diabetic retinopathy.
    BMC Med Genet 2018 May 8;19(1):71. Epub 2018 May 8.
    Menzies Institute for Medical Research, University of Tasmania, Hobart, Tasmania, Australia.
    Background: Diabetic macular edema (DME) and proliferative diabetic retinopathy (PDR) are sight-threatening complications of diabetes mellitus and leading causes of adult-onset blindness worldwide. Genetic risk factors for diabetic retinopathy (DR) have been described previously, but have been difficult to replicate between studies, which have often used composite phenotypes and been conducted in different populations. This study aims to identify genetic risk factors for DME and PDR as separate complications in Australians of European descent with type 2 diabetes. Read More

    Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing-impaired subjects.
    BMC Med Genet 2018 May 8;19(1):73. Epub 2018 May 8.
    Centro de Pesquisas sobre o Genoma Humano e Células-Tronco, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil.
    Background: Mutations in the SLC26A4 gene are associated with Pendred syndrome and autosomal recessive non-syndromic deafness (DFNB4). Both disorders have similar audiologic characteristics: bilateral hearing loss, often severe or profound, which may be associated with abnormalities of the inner ear, such as dilatation of the vestibular aqueduct or Mondini dysplasia. But, in Pendred syndrome (OMIM #274600), with autosomal recessive inheritance, besides congenital sensorineural deafness, goiter or thyroid dysfunctions are frequently present. Read More

    Dual novel mutations in SLC26A2 in two siblings with multiple epiphyseal dysplasia 4 from a Chinese family: a case report.
    BMC Med Genet 2018 May 3;19(1):70. Epub 2018 May 3.
    Department of Orthopaedic Surgery, First Affiliated Hospital of Sun Yat-sen University, No.58 Zhongshan 2nd Road, Yuexiu District, Guangzhou, 510080, China.
    Background: Multiple epiphyseal dysplasia (MED) is a heterogeneous genetic condition characterized by variable phenotypes, such as short stature (mild to moderate), joint deformities, abnormal gait, scoliosis, and brachydactyly. Recessive mutations in the SLC26A2 gene cause a phenotype of multiple epiphyseal dysplasia-4 (MED-4). In the present study, we identified novel compound heterozygous mutations in the SLC26A2 gene in a Chinese family with two affected sibs with MED-4. Read More

    Effect of smoking on the association of HHEX (rs5015480) with diabetes among Korean women and heavy smoking men.
    BMC Med Genet 2018 May 2;19(1):68. Epub 2018 May 2.
    Department of Epidemiology and Health Promotion, Institute for Health Promotion, Graduate School of Public Health, Yonsei University, Seoul, South Korea.
    Background: Several genome-wide association studies (GWAS) for serum fasting glucose levels have reported HHEX as possibly causal. The objective of this study was to examine the joint effect of smoking on the association of diabetes with the HHEX rs5015480 polymorphism among Korean subjects.

    Methods: This replication study included a total of 4240 individuals, and multivariate linear regression and multiple logistic regression models were used. Read More

    Prenatal diagnosis in a hereditary Peutz-Jeghers syndrome family with high cancer risk.
    BMC Med Genet 2018 May 2;19(1):66. Epub 2018 May 2.
    Guangdong Provincial Key Laboratory of Gastroenterology, Department of Gastroenterology, Nanfang Hospital, Southern Medical University, Guangzhou, 510515, China.
    Background: Peutz-Jeghers Syndrome (PJS) is a hereditary cancer predisposing syndrome caused by autosomal dominant mutations in the serine/threonine kinase 11 (STK11) gene and is associated with decreased life expectancy. Many families experience a poorer quality of life due to the psychological burden associated with the carrier status of their child. Therefore early genetic testing and confirmation of the diagnosis is important for patients' psychological status, as well as for clinical management, genetic counseling and possible prenatal family planning. Read More

    A novel mutation in the TG gene (G2322S) causing congenital hypothyroidism in a Sudanese family: a case report.
    BMC Med Genet 2018 May 2;19(1):69. Epub 2018 May 2.
    Department of Medicine, University of Miami Miller School of Medicine, 1120 NW 14th St., Room 310F, Miami, FL, 33136, USA.
    Background: Congenital hypothyroidism (CH) has an incidence of approximately 1:3000, but only 15% have mutations in the thyroid hormone synthesis pathways. Genetic analysis allows for the precise diagnosis.

    Case Presentation: A 3-week old girl presented with a large goiter, serum TSH > 100 mIU/L (reference range: 0. Read More

    Association of APEX1 and OGG1 gene polymorphisms with breast cancer risk among Han women in the Gansu Province of China.
    BMC Med Genet 2018 May 2;19(1):67. Epub 2018 May 2.
    Research Center of Translational Medicine, Gansu Provincial Academic Institute for Medical Research, NO. 2 Xiaoxihu East Street, Lanzhou, Gansu, 730050, People's Republic of China.
    Background: Genetic variations in key DNA repair genes may influence DNA repair capacity, DNA damage and breast carcinogenesis. The current study aimed to estimate the association of APEX1 and OGG1 polymorphisms with the risk of breast cancer development.

    Methods: A total of 518 patients with histopathologically confirmed breast cancer and 921 region- and age-matched cancer-free controls were genotyped for the APEX1 polymorphisms rs3136817 and rs1130409 and the OGG1 polymorphisms rs1052133 and rs2072668 using a QuantStudio™ 12 K Flex Real-Time PCR System. Read More

    Dopamine D2 receptor gene polymorphisms and externalizing behaviors in children and adolescents.
    BMC Med Genet 2018 May 2;19(1):65. Epub 2018 May 2.
    Department of Psychiatry - Faculty of Medical Sciences (FCM), State University of Campinas (Unicamp), Campinas, SP, Brazil.
    Background: Dopamine is involved in several cerebral physiological processes, and single nucleotide polymorphisms (SNP) in the dopamine D2 receptor gene (DRD2) have been associated with numerous neurological and mental disorders, including those involving alterations in cognitive and emotional processes.

    Methods: The aim of this study was to evaluate the association between the SNPs c.957C > T (rs6277) and c. Read More

    An unusually high frequency of SCAD deficiency caused by two pathogenic variants in the ACADS gene and its relationship to the ethnic structure in Slovakia.
    BMC Med Genet 2018 Apr 20;19(1):64. Epub 2018 Apr 20.
    Institute of Medical Biology, Genetics and Clinical Genetics, Faculty of Medicine, Comenius University and University Hospital, Department of Molecular and Biochemical Genetics - Centre of Expertise for Molecular and Biochemical Genetics of Rare Diseases, Bratislava, Slovakia.
    Background: Short-chain acyl-CoA dehydrogenase deficiency (SCADD) represents a rare autosomal recessive inborn metabolic disorder of mitochondrial β-oxidation of monocarboxylic acids. Clinical symptoms can vary from a severe life-threatening condition to an asymptomatic state, reported in the majority of cases. Since the expansion of newborn screenings, more than three hundred probands were admitted for molecular-genetic analysis, most selected because of elevated values of C4-acylcarnitine detected in newborn screenings in Slovakia. Read More

    A novel TEX11 mutation induces azoospermia: a case report of infertile brothers and literature review.
    BMC Med Genet 2018 Apr 16;19(1):63. Epub 2018 Apr 16.
    Reproductive Medicine Center, Xiamen Women's and Children's Health Hospital, Xiamen, 361003, Fujian Province, China.
    Background: Testis-expressed gene 11 (TEX11) is an X-linked gene and essential for meiotic recombination and chromosomal synapsis. TEX11 deficiency causes meiotic arrest and male infertility, and many TEX11 mutations have been found in azoospermic and infertile men.

    Case Presentation: This study reported one novel TEX11 mutation (2653G → T, in exon 29, GenBank accession number, NM_031276) in two brothers with azoospermia. Read More

    Identification and characterization of a novel 43-bp deletion mutation of the ATP7B gene in a Chinese patient with Wilson's disease: a case report.
    BMC Med Genet 2018 Apr 12;19(1):61. Epub 2018 Apr 12.
    State key Laboratory of Reproductive Medicine, Department of Prenatal Diagnosis, The Affiliated Obstetrics and Gynecology Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, No.123, Tianfeixiang, Mochou Road, Nanjing, 210004, Jiangsu Province, China.
    Background: Wilson's disease (WD) is an autosomal recessive disorder characterized by copper accumulation. ATP7B gene mutations lead to ATP7B protein dysfunction, which in turn causes Wilson's disease.

    Case Presentation: We describe a male case of Wilson's disease diagnosed at 10 years after routine biochemical test that showed low serum ceruloplasmin levels and Kayser-Fleischer rings in both corneas. Read More

    Identification of a novel nonsense mutation in SH2D1A in a patient with X-linked lymphoproliferative syndrome type 1: a case report.
    BMC Med Genet 2018 Apr 12;19(1):60. Epub 2018 Apr 12.
    Department of Hematology, the Affiliated Cancer Hospital of Zhengzhou University, Henan Cancer Hospital, Zhengzhou, 450000, Henan, China.
    Background: X-linked lymphoproliferative syndrome type 1 (XLP1) is an X-linked recessive genetic disorder with a strong resemblance to hemophagocytic lymphohistiocytosis (HLH). Causative mutations for XLP1 have been identified in SH2D1A, located on chromosome Xq25.

    Case Presentation: We report a case of an 18-month-old male with a novel nonsense mutation in SH2D1A. Read More

    Influence of maternal and own genotype at tanning dependence-related SNPs on sun exposure in childhood.
    BMC Med Genet 2018 Apr 12;19(1):62. Epub 2018 Apr 12.
    MRC Integrative Epidemiology Unit, University of Bristol, Bristol, UK.
    Background: Research suggests there may be a genetic influence on the likelihood of becoming tanning dependent (TD). The way in which mothers regulate their children's sun exposure may be affected by being TD. We investigated the associations between single nucleotide polymorphisms (SNPs) related to being TD and early sun exposure. Read More

    Association of IL10 and TGFB single nucleotide polymorphisms with intervertebral disc degeneration in Iranian population: a case control study.
    BMC Med Genet 2018 Apr 10;19(1):59. Epub 2018 Apr 10.
    Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Dr Qarib St, Keshavarz Blvd, Tehran, 14194, Iran.
    Background: Considered as one of the major causes of low back pain, Intervertebral disc degeneration (IVDD) is caused by several genetic and environmental factors. As inflammation plays an important role in disc degeneration, the genetic changes in both inflammatory and anti-inflammatory genes may play causative roles in IVDD as well. Therefore, the interactions between inflammatory and anti-inflammatory cytokines and also other components of disc matrix would determine the degree of tissue destruction in disc degeneration. Read More

    A novel mutation in the BCHE gene and phenotype identified in a child with low butyrylcholinesterase activity: a case report.
    BMC Med Genet 2018 Apr 10;19(1):58. Epub 2018 Apr 10.
    Department of Infectious Diseases, Southwest Hospital, Army Medical University (Third Military Medical University), Chongqing, 400038, People's Republic of China.
    Background: Butyrylcholinesterase (BChE), an ester hydrolase produced mainly by the liver, hydrolyzes certain short-acting neuromuscular blocking agents, like succinylcholine and mivacurium that are widely used during anesthesia. Patients with BChE deficiency are possibly in danger of postanesthetic apnea. Hereditary BChE deficiency results from the mutations of BCHE gene located on chromosome 3, 3q26. Read More

    Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases.
    BMC Med Genet 2018 Apr 7;19(1):57. Epub 2018 Apr 7.
    Université Côte d'Azur, CHU de Nice, Inserm, CNRS, IRCAN, Nice, France.
    Background: Since the advent of next generation sequencing (NGS), several studies have tried to evaluate the relevance of targeted gene panel sequencing and whole exome sequencing for molecular diagnosis of mitochondrial diseases. The comparison between these different strategies is extremely difficult. A recent study analysed a cohort of patients affected by a mitochondrial disease using a NGS approach based on a targeted gene panel including 132 genes. Read More

    Clinical and molecular genetic risk determinants in adult long QT syndrome type 1 and 2 patients : Koponen et al. Follow-up of adult LQTS patients.
    BMC Med Genet 2018 Apr 5;19(1):56. Epub 2018 Apr 5.
    Heart and Lung Center, Helsinki University Central Hospital, Helsinki, Finland.
    Background: Long QT syndrome (LQTS) is an inherited cardiac disorder predisposing to sudden cardiac death (SCD). We studied factors affecting the clinical course of genetically confirmed patients, in particular those not receiving β-blocker treatment. In addition, an attempt was made to associate risk of events to specific types of KCNQ1 and KCNH2 mutations. Read More

    Cholinergic receptor nicotinic alpha 5 subunit polymorphisms are associated with smoking cessation success in women.
    BMC Med Genet 2018 Apr 5;19(1):55. Epub 2018 Apr 5.
    Laboratory of Genetics and Molecular Cardiology, Instituto do Coracao (InCor), Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, SP, Brazil.
    Background: The identification of variants in the nicotinic acetylcholine receptor (nAChR) subunit genes associated with smoking phenotypes are increasingly important for prevention and treatment of nicotine dependence. In the context of personalized medicine, the aims of this study were to evaluate whether cholinergic receptor nicotinic alpha 2 (CHRNA2), cholinergic receptor nicotinic alpha 3 (CHRNA3), cholinergic receptor nicotinic alpha 5 (CHRNA5) and cholinergic receptor nicotinic beta 3 (CHRNB3) polymorphisms were associated with nicotine dependence severity, and to investigate possible pharmacogenetics markers of smoking cessation treatment.

    Methods: This study cohort enrolled 1049 smoking patients who received pharmacological treatment (varenicline, varenicline plus bupropion, bupropion plus/or nicotine replacement therapy). Read More

    Genetic analysis and clinical assessment of four patients with Glycogen Storage Disease Type IIIa in China.
    BMC Med Genet 2018 Apr 4;19(1):54. Epub 2018 Apr 4.
    Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, 200092, China.
    Background: Glycogen Storage Disease Type III (GSD III) is a rare autosomal recessive metabolic disorder caused by AGL gene mutation. There is significant heterogeneity between the clinical manifestations and the gene mutation of AGL among different ethnic groups. However, GSD III is rarely reported in Chinese population. Read More

    A method for determining haploid and triploid genotypes and their association with vascular phenotypes in Williams syndrome and 7q11.23 duplication syndrome.
    BMC Med Genet 2018 Apr 4;19(1):53. Epub 2018 Apr 4.
    Section on Integrative Neuroimaging, Clinical and Translational Neuroscience Branch, National Institute of Mental Health, National Institutes of Health, 10 Center Drive 3C-216, Bethesda, MD, 20892, USA.
    Background: Williams syndrome ([WS], 7q11.23 hemideletion) and 7q11.23 duplication syndrome (Dup7) show contrasting syndromic symptoms. Read More

    Association of polymorphism rs1053005 in STAT3 with chronic hepatitis B virus infection in Han Chinese population.
    BMC Med Genet 2018 Apr 2;19(1):52. Epub 2018 Apr 2.
    Department of Infectious Diseases, First Affiliated Hospital of Xi'an Jiaotong University, No. 277 Yanta West Road, Xi'an, 710061, Shaanxi Province, People's Republic of China.
    Background: Signal transducer and activator of transcription 3 (STAT3) is involved in hepatitis B virus (HBV) infection and HBV-related hepatocellular carcinoma (HCC). The association between polymorphism rs1053005 and haplotypes formed by rs1053004 and rs1053005 in the 3'UTR of STAT3 and chronic HBV infection has yet to be investigated.

    Methods: This study included 567 patients with chronic HBV infection (239 chronic hepatitis, 141 liver cirrhosis and 187 HCC), 98 HBV infection resolvers, and 169 healthy controls. Read More

    Mucopolysaccharidosis IIIB and mild skeletal anomalies: coexistence of NAGLU and CYP26B1 missense variations in the same patient in a Chinese family.
    BMC Med Genet 2018 Apr 2;19(1):51. Epub 2018 Apr 2.
    Department of Pediatrics, Peking University First Hospital, Beijing, 100034, China.
    Background: Sanfilippo type B syndrome (mucopolysac-charidosis type IIIB; MPS IIIB) is an autosomal recessive lysosomal storage disorder. It is caused by a critically reduced α-2-acetamido-2-deoxy-D-glucoside acetamidodeoxy glucohydrolase (α-N-acetylglucosaminidase or NAGLU) activity. Recently, an autosomal recessive disorder of skeletal dysplasia associated with CYP26B1 was reported in three families, in which the patients were all homozygous variations. Read More

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