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    1617 results match your criteria BMC Medical Genetics [Journal]

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    Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report.
    BMC Med Genet 2017 Sep 19;18(1):105. Epub 2017 Sep 19.
    Department of Medical Genetics, University of Pécs, Szigeti út 12, Pécs, H-7624, Hungary.
    Background: Defects of the slow myosin heavy chain isoform coding MYH7 gene primarily cause skeletal myopathies including Laing Distal Myopathy, Myosin Storage Myopathy and are also responsible for cardiomyopathies. Scapuloperoneal and limb-girdle muscle weakness, congenital fiber type disproportion, multi-minicore disease were also reported in connection of MYH7. Pathogeneses of the defects in the head and proximal rod region of the protein are well described. Read More

    SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures.
    BMC Med Genet 2017 Sep 18;18(1):104. Epub 2017 Sep 18.
    Department of Neurology, Harbin Children's Hospital, Harbin, Heilongjiang Province, 150010, China.
    Background: SCN8A mutations have recently been associated with epilepsy and neurodevelopmental disorders. This study aimed to broaden the phenotypic-spectrum of disease related with SCN8A mutations.

    Methods: To identify the pathogenic gene of a Chinese family, in which six members suffered from epilepsy, whole-exome sequencing was performed. Read More

    The (FTO) gene polymorphism is associated with metabolic syndrome risk in Egyptian females: a case- control study.
    BMC Med Genet 2017 Sep 16;18(1):101. Epub 2017 Sep 16.
    Biochemistry Department, Faculty of Pharmacy, Ain Shams University, African Union Organization Street, Abbassia, Cairo, 11566, Egypt.
    Background: Variations within fat mass and obesity associated (FTO) gene had crosstalk with obesity risk in European and some Asian populations. This study was designed to investigate FTO rs9939609 association with metabolic syndrome (MetS) as well as biochemical parameters as plasma glucose, serum triacylglycerol (TAG), total cholesterol (TC) and transaminases enzymes in Arab female population from Egypt.

    Methods: In order to achieve that, FTO gene rs9939609 (A < T) was genotyped using TaqMan SNP Genotyping Assay in a total of 197 females which were enrolled in this study. Read More

    Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand.
    BMC Med Genet 2017 Sep 16;18(1):102. Epub 2017 Sep 16.
    Center of Excellence for Medical Genetics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, 10330, Thailand.
    Background: Hyperphenylalaninemia (HPA) can be classified into phenylketonuria (PKU) which is caused by mutations in the phenylalanine hydroxylase (PAH) gene, and BH4 deficiency caused by alterations in genes involved in tetrahydrobiopterin (BH4) biosynthesis pathway. Dietary restriction of phenylalanine is considered to be the main treatment of PKU to prevent irreversible intellectual disability. However, the same dietary intervention in BH4 deficiency patients is not as effective, as BH4 is also a cofactor in many neurotransmitter syntheses. Read More

    Renin-angiotensin system gene polymorphisms and high blood pressure in Lithuanian children and adolescents.
    BMC Med Genet 2017 Sep 13;18(1):100. Epub 2017 Sep 13.
    Institute of Cardiology of Medical Academy, Lithuanian University of Health Sciences, Sukilėlių 15, LT-50161, Kaunas, Lithuania.
    Background: Epidemiological studies have demonstrated the influence of environmental factors on HBP in the population of Lithuanian children, although the role of genetic factors in hypertension has not yet been studied. The aim of this study was to assess the distribution of AGTR1, AGT, and ACE genotypes in the Lithuanian child population and to determine whether these genotypes have an impact on HBP in childhood.

    Methods: This cross-sectional study enrolled 709 participants aged 12-15 years. Read More


    Relationship of genetic causes and inhibin B in non obstructive azoospermia spermatogenic failure.
    BMC Med Genet 2017 Sep 6;18(1):98. Epub 2017 Sep 6.
    Department of Obstetrics and Gynecology, Center for Reproductive Medicine, Nanfang Hospital/ The First School of Clinical Medicine, Southern Medical University, Guangzhou, 510515, China.
    Background: Chromosomal disorders in non obstructive azoospermia (NOA) may have an important influence on spermatogenesis, which may be reflected by the serum inhibin B levels. Till now, few studies have concerned the relationship of genetic causes and inhibin B in NOA.

    Methods: In this retrospective study, 322 men with NOA in Center for Reproductive Medicine, Nanfang Hospital, Southern Medical University were collected. Read More

    Living kidney transplantation between brothers with unrecognized renal amyloidosis as the first manifestation of familial Mediterranean fever: a case report.
    BMC Med Genet 2017 Aug 31;18(1):97. Epub 2017 Aug 31.
    Nephrology Department, La Paz University Hospital, IdiPAZ, Autonomous University, Madrid, Spain.
    Background: Familial Mediterranean fever is an autosomal recessive disease characterized by recurrent episodes of fever and polyserositis and by the onset of reactive amyloid-associated amyloidosis. Amyloidosis due to familial Mediterranean fever can lead to end-stage renal disease, culminating in kidney transplantation for some patients. In this study, we report the clinical outcome of two brothers with familial Mediterranean fever who were the inadvertent donor and recipient, respectively, of a kidney. Read More

    Novel FOXG1 mutations in Chinese patients with Rett syndrome or Rett-like mental retardation.
    BMC Med Genet 2017 Aug 29;18(1):96. Epub 2017 Aug 29.
    Department of Pediatrics, Peking University First Hospital, Beijing, 100034, China.
    Background: We aimed to delineate clinical phenotypes associated with FOXG1 mutations in Chinese patients with Rett syndrome (RTT) or RTT-like mental retardation (MR).

    Methods: Four hundred and fifty-one patients were recruited, including 418 with RTT and 33 with RTT-like MR. Gene mutations were identified by a target capture method and verified by Sanger sequencing. Read More

    Vitamin D receptor gene polymorphisms in association with diabetic nephropathy: a systematic review and meta-analysis.
    BMC Med Genet 2017 Aug 29;18(1):95. Epub 2017 Aug 29.
    Department of Nephrology, the First Affiliated Hospital of China Medical University, 155th Nanjing North Street, Shenyang, Liaoning, 110001, People's Republic of China.
    Background: A large amount of researches have demonstrated that vitamin D receptor (VDR) gene polymorphisms are associated with diabetic nephropathy (DN) risk in diabetes mellitus (DM) patients. Nevertheless, the results are inconclusive and inconsistent.

    Methods: We screened PubMed, Embase, Chinese National Knowledge Infrastructure and Chinese Wanfang databases for those relevant studies updated in May 2016. Read More

    An Aγ-globin G->A gene polymorphism associated with β(0)39 thalassemia globin gene and high fetal hemoglobin production.
    BMC Med Genet 2017 Aug 29;18(1):93. Epub 2017 Aug 29.
    Department of Life Sciences and Biotechnology, Ferrara University, Via Fossato di Mortara 74, 44121, Ferrara, Italy.
    Background: Increase of the expression of γ-globin gene and high production of fetal hemoglobin (HbF) in β-thalassemia patients is widely accepted as associated with a milder or even asymptomatic disease. The search for HbF-associated polymorphisms (such as the XmnI, BCL11A and MYB polymorphisms) has recently gained great attention, in order to stratify β-thalassemia patients with respect to expectancy of the first transfusion, need for annual intake of blood, response to HbF inducers (the most studied of which is hydroxyurea).

    Methods: Aγ-globin gene sequencing was performed on genomic DNA isolated from a total of 75 β-thalassemia patients, including 31 β(0)39/β(0)39, 33 β(0)39/β(+)IVSI-110, 9 β(+)IVSI-110/β(+)IVSI-110, one β(0)IVSI-1/β(+)IVSI-6 and one β(0)39/β(+)IVSI-6. Read More

    Performance of risk prediction for inflammatory bowel disease based on genotyping platform and genomic risk score method.
    BMC Med Genet 2017 Aug 29;18(1):94. Epub 2017 Aug 29.
    Queensland Brain Institute, The University of Queensland, Brisbane, Australia.
    Background: Predicting risk of disease from genotypes is being increasingly proposed for a variety of diagnostic and prognostic purposes. Genome-wide association studies (GWAS) have identified a large number of genome-wide significant susceptibility loci for Crohn's disease (CD) and ulcerative colitis (UC), two subtypes of inflammatory bowel disease (IBD). Recent studies have demonstrated that including only loci that are significantly associated with disease in the prediction model has low predictive power and that power can substantially be improved using a polygenic approach. Read More

    Genome-wide association and targeted analysis of copy number variants with psoriatic arthritis in German patients.
    BMC Med Genet 2017 Aug 23;18(1):92. Epub 2017 Aug 23.
    Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Schwabachanlage 10, 91054, Erlangen, Germany.
    Background: Psoriatic Arthritis (PsA) is a chronic inflammatory disease of the joints. PsA is etiologically complex, and 11 susceptibility loci have been identified so far. Most of these overlap with loci associated with psoriasis vulgaris (PsV), the most common psoriatic skin manifestation which is also frequently seen in PsA patients. Read More

    A homozygous missense variant in HSD17B4 identified in a consanguineous Chinese Han family with type II Perrault syndrome.
    BMC Med Genet 2017 Aug 23;18(1):91. Epub 2017 Aug 23.
    Department & Institute of Neurology, Huashan Hospital, Fudan University, 12 Wulumuqi Zhong Road, Shanghai, 200040, China.
    Background: Perrault syndrome is a rare multisystem disorder that manifests with sensorineural hearing loss in both sexes, primary ovarian insufficiency in females and neurological features. The syndrome is heterogeneous both genetically and phenotypically.

    Case Presentation: We reported a consanguineous family (two affected sisters) with Perrault syndrome. Read More

    Allelic variants in vitamin D receptor gene are associated with adiposity measures in the central-European population.
    BMC Med Genet 2017 Aug 22;18(1):90. Epub 2017 Aug 22.
    Research Centre for Toxic Compounds in the Environment, Faculty of Sciences, Masaryk University, Kamenice A29, Brno, Czech Republic.
    Background: There is an increasing body of evidence suggesting that vitamin D is involved in ethiopathogenesis of obesity and therefore the aim of the study was to investigate whether 5 selected SNPs in VDR (vitamin D receptor) gene are associated also with anthropometry in the obese and non-obese Central-European population.

    Methods: A total of 882 Central European Caucasian individuals of Czech origin were recruited (n = 882, 232 M/650 F) and weight, height, BMI, lean body mass, fat mass, body fat, waist and hip circumference, waist-hip ratio (WHR) and skinfold thickness were measured. Univariate and multivariate models were constructed in order to investigate the relationship between anthropometry and VDR polymorphisms. Read More

    Association between fat mass and obesity associated (FTO) gene rs9939609 A/T polymorphism and polycystic ovary syndrome: a systematic review and meta-analysis.
    BMC Med Genet 2017 Aug 21;18(1):89. Epub 2017 Aug 21.
    Institute of Biological Science, School of Pharmaceutical and Biological Science, University of South China, Hengyang, Hunan Province, 421001, China.
    Background: Up to now, numerous case-control studies have reported the associations between fat mass and obesity associated (FTO) gene rs9939609 A/T polymorphism and polycystic ovary syndrome (PCOS), however, without a consistent result. Hence we performed current systematic review and meta-analysis to clarify the controversial results.

    Methods: Case-control studies reporting the relationship of rs9939609 A/T polymorphism and PCOS published before April 2015 were searched in Pubmed database without language restriction. Read More

    Gene expression profiling of idiopathic interstitial pneumonias (IIPs): identification of potential diagnostic markers and therapeutic targets.
    BMC Med Genet 2017 Aug 18;18(1):88. Epub 2017 Aug 18.
    Department of Molecular and Internal Medicine, Hiroshima University, 1-2-3 Kasumi, Minami-ku, Hiroshima, 734-8551, Japan.
    Background: Chronic fibrosing idiopathic interstitial pneumonia (IIP) is characterized by alveolar epithelial damage, activation of fibroblast proliferation, and loss of normal pulmonary architecture and function. This study aims to investigate the genetic backgrounds of IIP through gene expression profiling and pathway analysis, and to identify potential biomarkers that can aid in diagnosis and serve as novel therapeutic targets.

    Methods: RNA extracted from lung specimens of 12 patients with chronic fibrosing IIP was profiled using Illumina Human WG-6 v3 BeadChips, and Ingenuity Pathway Analysis was performed to identify altered functional and canonical signaling pathways. Read More

    Novel mutations in PANK2 and PLA2G6 genes in patients with neurodegenerative disorders: two case reports.
    BMC Med Genet 2017 Aug 18;18(1):87. Epub 2017 Aug 18.
    Center for Therapeutic Innovation and Department of Psychiatry and Behavioral Sciences, University of Miami Miller School of Medicine, Miami, USA.
    Background: Neurodegeneration with brain iron accumulation (NBIA) is a genetically heterogeneous group of disorders associated with progressive impairment of movement, vision, and cognition. The disease is initially diagnosed on the basis of changes in brain magnetic resonance imaging which indicate an abnormal brain iron accumulation in the basal ganglia. However, the diagnosis of specific types should be based on both clinical findings and molecular genetic testing for genes associated with different types of NBIA, including PANK2, PLA2G6, C19orf12, FA2H, ATP13A2, WDR45, COASY, FTL, CP, and DCAF17. Read More

    Case reports of two pedigrees with recessive arrhythmogenic right ventricular cardiomyopathy associated with homozygous Thr335Ala variant in DSG2.
    BMC Med Genet 2017 Aug 17;18(1):86. Epub 2017 Aug 17.
    Blueprint Genetics, Helsinki, Finland.
    Background: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiac disease, involving changes in ventricular myocardial tissue and leading to fatal arrhythmias. Mutations in desmosomal genes are thought to be the main cause of ARVC. However, the exact molecular genetic etiology of the disease still remains largely inconclusive, and this along with large variabilities in clinical manifestations complicate clinical diagnostics. Read More

    Monoallelic characteristic-bearing heterozygous L1053X in BRCA2 gene among Sudanese women with breast cancer.
    BMC Med Genet 2017 Aug 16;18(1):85. Epub 2017 Aug 16.
    Department of Bioinformatics, Africa City of Technology, Sudan University of Medical Science and Technology, Khartoum, Sudan.
    Background: Breast cancer (BC) is the most common type of cancer in women. Among many risk factors of BC, mutations in BRCA2 gene were found to be the primary cause in 5-10% of cases. The majority of deleterious mutations are frameshift or nonsense mutations. Read More

    Polymorphism rs189037C > T in the promoter region of the ATM gene may associate with reduced risk of T2DM in older adults in China: a case control study.
    BMC Med Genet 2017 Aug 14;18(1):84. Epub 2017 Aug 14.
    Center of Gerontology and Geriatrics, West China Hospital, Sichuan University, NO. 37, Guoxuexiang, Chengdu, Sichuan, 610041, China.
    Background: Recent evidence indicates that ataxia telangiectasia mutated (ATM) is a cytoplasmic protein that involves in insulin signaling pathways. When ATM gene is mutated, this event appears to contribute to the development of insulin resistance and type 2 diabetes mellitus (T2DM). Up to date, little information about the relationship between ATM gene polymorphism and T2DM is available. Read More

    Large intragenic deletion of CDC73 (exons 4-10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family.
    BMC Med Genet 2017 Aug 3;18(1):83. Epub 2017 Aug 3.
    Departments of Laboratory Medicine and Pathobiology, Medicine and Genetics, University of Toronto, Toronto, ON, Canada.
    Background: Inactivating mutations of CDC73 cause Hyperparathyroidism-Jaw Tumour syndrome (HPT-JT), Familial Isolated Hyperparathyroidism (FIHP) and sporadic parathyroid carcinoma. We conducted CDC73 mutation analysis in an HPT-JT family and confirm carrier status of the proband's daughter.

    Methods: The proband had primary hyperparathyroidism (parathyroid carcinoma) and uterine leiomyomata. Read More

    A systematic review of genetic mutations in pulmonary arterial hypertension.
    BMC Med Genet 2017 Aug 2;18(1):82. Epub 2017 Aug 2.
    Cátedra de Bioinformática, Escuela de Medicina y Ciencias de la Salud, Tecnologico de Monterrey, Av Morones Prieto No. 3000 Colonia Los Doctores, 64710, Monterrey, Nuevo León, Mexico.
    Background: Pulmonary arterial hypertension (PAH) is a group of vascular diseases that produce right ventricular dysfunction, heart failure syndrome, and death. Although the majority of patients appear idiopathic, accumulated research work combined with current sequencing technology show that many gene variants could be an important component of the disease. However, current guidelines, clinical practices, and available gene panels focus the diagnosis of PAH on a relatively low number of genes and variants associated with the bone morphogenic proteins and transforming Growth Factor-β pathways, such as the BMPR2, ACVRL1, CAV1, ENG, and SMAD9. Read More

    The susceptibility of FSHB -211G > T and FSHR G-29A, 919A > G, 2039A > G polymorphisms to men infertility: an association study and meta-analysis.
    BMC Med Genet 2017 Aug 1;18(1):81. Epub 2017 Aug 1.
    Institute of Laboratory Medicine, Jinling Hospital, Nanjing University School of Medicine, Nanjing, 210002, People's Republic of China.
    Background: Male infertility is a complex disorder caused by genetic, developmental, endocrine, or environmental factors as well as unknown etiology. Polymorphisms in the follicle stimulating hormone beta subunit (FSHB) (rs10835638, c.-211G > T) and follicle stimulating hormone receptor (FSHR) (rs1394205, c. Read More

    Interaction between obesity and the Hypoxia Inducible Factor 3 Alpha Subunit rs3826795 polymorphism in relation with plasma alanine aminotransferase.
    BMC Med Genet 2017 Jul 28;18(1):80. Epub 2017 Jul 28.
    Division of Maternal and Child Health, School of Public Health, Peking University Health Science Center, Beijing, 100191, China.
    Background: Hypoxia Inducible Factor 3 Alpha Subunit (HIF3A) DNA has been demonstrated to be associated with obesity in the methylation level, and it also has a Body Mass Index (BMI)-independent association with plasma alanine aminotransferase (ALT). However, the relation among obesity, plasma ALT, HIF3A polymorphism and methylation remains unclear. This study aims to identify the association between HIF3A polymorphism and plasma ALT, and further to determine whether the effect of HIF3A polymorphism on ALT could be modified by obesity or mediated by DNA methylation. Read More

    Cascade Fumarate Hydratase mutation screening allows early detection of kidney tumour: a case report.
    BMC Med Genet 2017 Jul 26;18(1):79. Epub 2017 Jul 26.
    Centre for Nephrology, University College London, Royal Free Hospital, London, UK.
    Background: Fumarate hydratase (FH) deficiency is a rare autosomal recessive disorder which results in a major defect in cellular metabolism. It presents in infancy with progressive encephalopathy, hypotonia, seizures and failure to thrive and is often fatal in childhood. It is caused by mutations in the FH gene (1q42. Read More

    Association between 28 single nucleotide polymorphisms and type 2 diabetes mellitus in the Kazakh population: a case-control study.
    BMC Med Genet 2017 Jul 24;18(1):76. Epub 2017 Jul 24.
    National Center for Biotechnology, 13/5 Korgalzhyn str, Astana, 010000, Kazakhstan.
    Background: We evaluated the associations between single nucleotide polymorphisms and different clinical parameters related to type 2 diabetes mellitus (T2DM), obesity risk, and metabolic syndrome (MS) in a Kazakh cohort.

    Methods: A total of 1336 subjects, including 408 T2DM patients and 928 control subjects, were recruited from an outpatient clinic and genotyped for 32 polymorphisms previously associated with T2DM and obesity-related phenotypes in other ethnic groups. For association studies, the chi-squared test or Fisher's exact test for binomial variables were used. Read More

    Functional study of DAND5 variant in patients with Congenital Heart Disease and laterality defects.
    BMC Med Genet 2017 Jul 24;18(1):77. Epub 2017 Jul 24.
    Stem Cells and Development Laboratory, CEDOC, NOVA Medical School / Faculdade de Ciências Médicas, Universidade Nova de Lisboa, Lisboa, Portugal.
    Background: Perturbations on the Left-Right axis establishment lead to laterality defects, with frequently associated Congenital Heart Diseases (CHDs). Indeed, in the last decade, it has been reported that the etiology of isolated cases of CHDs or cases of laterality defects with associated CHDs is linked with variants of genes involved in the Nodal signaling pathway.

    Methods: With this in mind, we analyzed a cohort of 38 unrelated patients with Congenital Heart Defects that can arise from initial perturbations in the formation of the Left-Right axis and 40 unrelated ethnically matched healthy individuals as a control population. Read More

    Whole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with Alström syndrome.
    BMC Med Genet 2017 Jul 19;18(1):75. Epub 2017 Jul 19.
    Key Laboratory of Birth Defects, Children's Hospital of Fudan University, Shanghai, China.
    Background: Alström syndrome is a rare multi-systemic disorder with a broad spectrum of symptoms. This syndrome is characterized by childhood retinal degeneration; sensorineural hearing loss; obesity; type 2 diabetes mellitus; cardiomyopathy; systemic fibrosis; and pulmonary, hepatic, and renal failure.

    Case Presentation: A Chinese quartet family with two siblings predominantly affected by cone-rod dystrophy and short stature were recruited. Read More

    Sex is a moderator of the association between NOS1AP sequence variants and QTc in two long QT syndrome founder populations: a pedigree-based measured genotype association analysis.
    BMC Med Genet 2017 Jul 18;18(1):74. Epub 2017 Jul 18.
    Department of Clinical Sciences, Pediatrics, Umeå University, 90187, Umeå, Sweden.
    Background: Sequence variants in the NOS1AP gene have repeatedly been reported to influence QTc, albeit with moderate effect sizes. In the long QT syndrome (LQTS), this may contribute to the substantial QTc variance seen among carriers of identical pathogenic sequence variants. Here we assess three non-coding NOS1AP sequence variants, chosen for their previously reported strong association with QTc in normal and LQTS populations, for association with QTc in two Swedish LQT1 founder populations. Read More

    Case reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 gene.
    BMC Med Genet 2017 Jul 17;18(1):73. Epub 2017 Jul 17.
    Center for Therapeutic Innovation, Department of Psychiatry and Behavioral Sciences, University of Miami Miller School of Medicine, Miami, USA.
    Background: Type II or juvenile GM1-gangliosidosis is an autosomal recessive lysosomal storage disorder, which is clinically distinct from infantile form of the disease by the lack of characteristic cherry-red spot and hepatosplenomegaly. The disease is characterized by slowly progressive neurodegeneration and mild skeletal changes. Due to the later age of onset and uncharacteristic presentation, diagnosis is frequently puzzled with other ataxic and purely neurological disorders. Read More

    Signal transducer and activator of transcription 3 (STAT3) promoter methylation and expression in pituitary adenoma.
    BMC Med Genet 2017 Jul 14;18(1):72. Epub 2017 Jul 14.
    Laboratory of Neurooncology and Genetics, Neuroscience Institute, Lithuanian University of Health Sciences, Eiveniu str. 2, LT-50009, Kaunas, Lithuania.
    Background: Pituitary adenoma (PA) is a benign brain tumor that can cause neurological, endocrinological and ophthalmological aberrations. Till now there is a need to identify factors that can influence the tumor invasiveness and recurrence. The aim of this study was to evaluate the associations between the signal transducer and activator of transcription 3 (STAT3) promoter methylation, mRNA expression and the invasiveness or recurrence of PAs and patient clinical characteristics. Read More

    f-treeGC: a questionnaire-based family tree-creation software for genetic counseling and genome cohort studies.
    BMC Med Genet 2017 Jul 14;18(1):71. Epub 2017 Jul 14.
    Division of Biomedical Information Analysis, Iwate Tohoku Medical Megabank Organization, Iwate Medical University, Shiwa, Iwate, 028-3694, Japan.
    Background: The Tohoku Medical Megabank project aims to create a next-generation personalized healthcare system by conducting large-scale genome-cohort studies involving three generations of local residents in the areas affected by the Great East Japan Earthquake. We collected medical and genomic information for developing a biobank to be used for this healthcare system. We designed a questionnaire-based pedigree-creation software program named "f-treeGC," which enables even less experienced medical practitioners to accurately and rapidly collect family health history and create pedigree charts. Read More

    Using KASP technique to screen LRRK2 G2019S mutation in a large Tunisian cohort.
    BMC Med Genet 2017 Jul 6;18(1):70. Epub 2017 Jul 6.
    Department of Neurology, UR12SP21, Razi Hospital, 1 rue des Orangers, 2010, Tunis, Manouba, Tunisia.
    Background: In North African populations, G2019S mutation in LRRK2 gene, encoding for the leucine-rich repeat kinase 2, is the most prevalent mutation linked to familial and sporadic Parkinson's disease (PD). Early detection of G2019S by fast genetic testing is very important to guide PD's diagnosis and support patients and their family caregivers for better management of their life according to disease's evolution.

    Methods: In our study, a genetic PD's diagnosis tool was developed for large scale genotyping using Kompetitive Allele Specific PCR (KASP) technology. Read More

    Association study of candidate genes for susceptibility to Kashin-Beck disease in a Tibetan population.
    BMC Med Genet 2017 Jun 26;18(1):69. Epub 2017 Jun 26.
    The Key Laboratory for Human Disease Gene Study, Hospital of University of Electronic Science and Technology of China and Sichuan Provincial People's Hospital, Chengdu, Sichuan, China.
    Background: Many osteoarthritis (OA) susceptibility genes have been identified in recent years. Given the overlap in the phenotype of joint inflammation between OA and Kashin-Beck disease (KBD), the aim of this study is to explore whether the reported OA susceptibility genes and two genes that may link to OA pathophysiology are associated with KBD in the Tibetan population.

    Method: Fifteen single-nucleotide polymorphisms (SNPs) in 12 candidate genes previously reported as OA susceptibility loci were selected for investigation. Read More

    Identification of a novel CTCF mutation responsible for syndromic intellectual disability - a case report.
    BMC Med Genet 2017 Jun 15;18(1):68. Epub 2017 Jun 15.
    Centre for Arab Genomic Studies, P.O. Box 22252, Dubai, United Arab Emirates.
    Background: Autosomal dominant mental retardation 21 (MRD21) is a very rare condition, characterized by short stature, microcephaly, mild facial dysmorphisms and intellectual disability that ranged from mild to severe. MRD21 is caused by mutations in CCCTC-binding factor (CTCF) and this was established through only four unrelated cases, two of which had frameshift mutations. CTCF is a master transcriptional regulator that controls chromatin structure and may serve as insulator and transcriptional activator and repressor. Read More

    MLPA identification of dystrophin mutations and in silico evaluation of the predicted protein in dystrophinopathy cases from India.
    BMC Med Genet 2017 Jun 13;18(1):67. Epub 2017 Jun 13.
    Molecular Genetics Laboratory, Neurobiology Research Centre, Department of Psychiatry, National Institute of Mental Health and Neurosciences, Hosur Road, Bangalore, 560029, Karnataka, India.
    Background: Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive disorders caused by mutations in the DMD gene. The aim of this study was to predict the effect of gene mutations on the dystrophin protein and study its impact on clinical phenotype.

    Methods: In this study, 415 clinically diagnosed patients were tested for mutations by Multiplex ligation dependent probe amplification (MLPA). Read More

    Two novel C-terminal frameshift mutations in the β-globin gene lead to rapid mRNA decay.
    BMC Med Genet 2017 Jun 8;18(1):65. Epub 2017 Jun 8.
    Institute of Biochemistry and Biophysics, Polish Academy of Sciences, Pawinskiego 5a, 02-106, Warszawa, Poland.
    Background: The thalassemia syndromes are classified according to the globin chain or chains whose production is affected. β-thalassemias are caused by point mutations or, more rarely, deletions or insertions of a few nucleotides in the β-globin gene or its immediate flanking sequences. These mutations interfere with the gene function either at the transcriptional, translational or posttranslational level. Read More

    A novel KCNQ1 nonsense variant in the isoform-specific first exon causes both jervell and Lange-Nielsen syndrome 1 and long QT syndrome 1: a case report.
    BMC Med Genet 2017 Jun 8;18(1):66. Epub 2017 Jun 8.
    Division of Clinical Genetics, Chiba University Hospital, 1-8-1 Inohana, Chuo-ku, Chiba City, Chiba Prefecture, 260-8670, Japan.
    Background: According to previous KCNQ1 (potassium channel, voltage gated, KQT-like subfamily, member 1) gene screening studies, missense variants, but not nonsense or frame-shift variants, cause the majority of long QT syndrome (LQTS; Romano-Ward syndrome [RWS]) 1 cases. Several missense variants are reported to cause RWS by a dominant-negative mechanism, and some KCNQ1 variants can cause both Jervell and Lange-Nielsen Syndrome (JLNS; in an autosomal recessive manner) and LQTS1 (in an autosomal dominant manner), while other KCNQ1 variants cause only JLNS. The human KCNQ1 gene is known to have two transcript isoforms (kidney isoform and pancreas isoform), and both isoforms can form a functional cardiac potassium channel. Read More

    KCNJ11, ABCC8 and TCF7L2 polymorphisms and the response to sulfonylurea treatment in patients with type 2 diabetes: a bioinformatics assessment.
    BMC Med Genet 2017 Jun 6;18(1):64. Epub 2017 Jun 6.
    Department of Global Biostatistics and Data Science, Tulane University School of Public Health and Tropical Medicine, New Orleans, LA, 70112, USA.
    Background: Type 2 diabetes (T2D) is a worldwide epidemic with considerable health and economic consequences. Sulfonylureas are widely used drugs for the treatment of patients with T2D. KCNJ11 and ABCC8 encode the Kir6. Read More

    A novel SYNE1 gene mutation in a Chinese family of Emery-Dreifuss muscular dystrophy-like.
    BMC Med Genet 2017 Jun 5;18(1):63. Epub 2017 Jun 5.
    Department of Neurology, People's Hospital of Zhengzhou University, No. 7 Weiwu Road, Zhengzhou, Henan, 450003, China.
    Background: In the present study, a novel mutation in exon 46 at codon 2304 (G2304R) of the SYNE1 gene is described in a Chinese family (proband, mother, and sister) with Emery-Dreifuss muscular dystrophy-like, which clinically manifests as muscle weakness, muscle atrophy, joint contracture, and without significant cardiac abnormalities.

    Methods: Clinical examination and neuroimaging of the captured target region and high-throughput sequencing were performed in a family of four generations. Muscle changes were evaluated using magnetic resonance imaging and muscle biopsies. Read More

    Clinical diagnostic exome evaluation for an infant with a lethal disorder: genetic diagnosis of TARP syndrome and expansion of the phenotype in a patient with a newly reported RBM10 alteration.
    BMC Med Genet 2017 Jun 2;18(1):60. Epub 2017 Jun 2.
    Rush University Medical Center, Chicago, IL, USA.
    Background: Diagnostic Exome Sequencing (DES) has been shown to be an effective tool for diagnosis individuals with suspected genetic conditions.

    Case Presentation: We report a male infant born with multiple anomalies including bilateral dysplastic kidneys, cleft palate, bilateral talipes, and bilateral absence of thumbs and first toes. Prenatal testing including chromosome analysis and microarray did not identify a cause for the multiple congenital anomalies. Read More

    Novel APC gene mutations associated with protein alteration in diffuse type gastric cancer.
    BMC Med Genet 2017 Jun 2;18(1):61. Epub 2017 Jun 2.
    Department of Biotechnology, Mizoram University, Aizawl, 796004, Mizoram, India.
    Background: The role of adenomatous polyposis coli (APC) gene in mitosis might be critical for regulation of genomic stability and chromosome segregation. APC gene mutations have been associated to have a role in colon cancer and since gastric and colon tumors share some common genetic lesions, it is relevant to investigate the role of APC tumor suppressor gene in gastric cancer.

    Methods: We investigated for somatic mutations in the Exons 14 and 15 of APC gene from 40 diffuse type gastric cancersamples. Read More

    Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated phenotype: case report.
    BMC Med Genet 2017 Jun 2;18(1):62. Epub 2017 Jun 2.
    Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Plzenska 130/221, 15000, Prague 5, Czech Republic.
    Background: Whole exome sequencing is a powerful tool for the analysis of genetically heterogeneous conditions. The prioritization of variants identified often focuses on nonsense, frameshift and canonical splice site mutations, and highly deleterious missense variants, although other defects can also play a role. The definition of the phenotype range and course of rare genetic conditions requires long-term clinical follow-up of patients. Read More

    Severe child form of primary hyperoxaluria type 2 - a case report revealing consequence of GRHPR deficiency on metabolism.
    BMC Med Genet 2017 May 31;18(1):59. Epub 2017 May 31.
    Institute of Medical Biology, Genetics and Clinical Genetics, Comenius University, Faculty of Medicine & University Hospital Bratislava, Sasinkova 4, 811 08, Bratislava, Slovakia.
    Background: Primary hyperoxaluria type 2 is a rare monogenic disorder inherited in an autosomal recessive pattern. It results from the absence of the enzyme glyoxylate reductase/hydroxypyruvate reductase (GRHPR). As a consequence of deficient enzyme activity, excessive amounts of oxalate and L-glycerate are excreted in the urine, and are a source for the formation of calcium oxalate stones that result in recurrent nephrolithiasis and less frequently nephrocalcinosis. Read More

    A simple, fast and inexpensive method for mutation scanning of CFTR gene.
    BMC Med Genet 2017 May 25;18(1):58. Epub 2017 May 25.
    National Center of Medical Genetics, Havana, Cuba.
    Background: Mutation scanning methods in Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene may not distinguish between a Cystic Fibrosis (CF) causing mutation and a benign variant. We have developed a simple and fast method for scanning 14 selected CF-causing mutations which have high frequency in Latin America.

    Methods: In a group of 35 samples coming from CF patients previously characterized and using two allele-specific real-time multiplex PCRs targeting wild-type and mutant alleles respectively, we detect the presence of mutations by analyzing the Ct variation. Read More

    Pancreas and gallbladder agenesis in a newborn with semilobar holoprosencephaly, a case report.
    BMC Med Genet 2017 May 19;18(1):57. Epub 2017 May 19.
    Diabetes Research Center, Vrije Universiteit Brussel, Laarbeeklaan 103, Jette, 1090, Brussels, Belgium.
    Background: Pancreatic agenesis is an extremely rare cause of neonatal diabetes mellitus and has enabled the discovery of several key transcription factors essential for normal pancreas and beta cell development.

    Case Presentation: We report a case of a Caucasian female with complete pancreatic agenesis occurring together with semilobar holoprosencephaly (HPE), a more common brain developmental disorder. Clinical findings were later confirmed by autopsy, which also identified agenesis of the gallbladder. Read More

    Association of 4p14 and 6q27 variation with Graves disease: a case-control study and a meta-analysis of available evidence.
    BMC Med Genet 2017 May 18;18(1):56. Epub 2017 May 18.
    Department of Emergency Medicine, Zhongshan Hospital, Fudan University, 180 Fenglin Road, Shanghai, 200032, People's Republic of China.
    Background: The etiology of the Graves' disease (GD) is largely unknown. However, genetic factors are believed to play a major role. A recent genome-wide association study in a Han Chinese sample collection revealed two new Graves' disease (GD) risk loci within chromosome band 4p14 and 6q27. Read More

    Case report of unexpected gastrointestinal involvement in type 1 Gaucher disease: comparison of eliglustat tartrate treatment and enzyme replacement therapy.
    BMC Med Genet 2017 May 15;18(1):55. Epub 2017 May 15.
    Medical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
    Background: Gastrointestinal involvement in Gaucher disease is very rare, and appears to be unresponsive to enzyme replacement therapy (ERT).

    Case Presentation: Here, we describe identical twin, splenectomized, non-neuronopathic Gaucher patients on long-term ERT for 9 years, who complained of epigastric discomfort due to Gaucher cell infiltration of the gastroduodenal mucosa. Rare compound heterozygous mutations (p. Read More

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