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    1692 results match your criteria BMC Medical Genetics [Journal]

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    Altered DNA methylation in liver and adipose tissues derived from individuals with obesity and type 2 diabetes.
    BMC Med Genet 2018 Feb 21;19(1):28. Epub 2018 Feb 21.
    Inmunogenomics and Metabolic Disease Laboratory, Instituto Nacional de Medicina Genómica, SS México City, Mexico.
    Background: Obesity is a well-recognized risk factor for insulin resistance and type 2 diabetes (T2D), although the precise mechanisms underlying the relationship remain unknown. In this study we identified alterations of DNA methylation influencing T2D pathogenesis, in subcutaneous and visceral adipose tissues, liver, and blood from individuals with obesity.

    Methods: The study included individuals with obesity, with and without T2D. Read More

    Association of matrix metalloprotease 1, 3, and 12 polymorphisms with rheumatic heart disease in a Chinese Han population.
    BMC Med Genet 2018 Feb 20;19(1):27. Epub 2018 Feb 20.
    Laboratory of Molecular Cardiology, Department of Cardiology, The First Affiliated Hospital of Kunming Medical University, Kunming, 650032, China.
    Background: Rheumatic heart disease (RHD) is an autoimmune disease triggered by acute rheumatic fever (ARF). Matrix metalloproteinases (MMPs) play an important role in the modulation of immune responses. The purpose of this study was to evaluate the association of MMP1, 3, and 12 promoter polymorphisms with RHD in a Han population in Southern China since the 3 genes are localized on the same chromosome and have a combined effect. Read More

    Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report.
    BMC Med Genet 2018 Feb 20;19(1):25. Epub 2018 Feb 20.
    RILD Wellcome Wolfson Centre - Level 4, Royal Devon and Exeter NHS Foundation Trust, University of Exeter Medical School, Barrack Road, Exeter, EX2 5DW, UK.
    Background: L-2-hydroxyglutaric aciduria (L2HGA) is a progressive neurometabolic disease of brain caused by mutations of in L-2-hydroxyglutarate dehydrogenase (L2HGDH) gene. Cardinal clinical features include cerebellar ataxia, epilepsy, neurodevelopmental delay, intellectual disability, and other clinical neurological deficits.

    Case Presentation: We describe an index case of the family presented with generalised tonic-clonic seizure, developmental delay, intellectual disability, and ataxia. Read More

    Identification of genetic variants for clinical management of familial colorectal tumors.
    BMC Med Genet 2018 Feb 20;19(1):26. Epub 2018 Feb 20.
    Department of Tumor Biology, Institute for Cancer Research, Oslo University Hospital, Oslo, Norway.
    Background: The genetic mechanisms for families who meet the clinical criteria for Lynch syndrome (LS) but do not carry pathogenic variants in the mismatch repair (MMR) genes are still undetermined. We aimed to study the potential contribution of genes other than MMR genes to the biological and clinical characteristics of Norwegian families fulfilling Amsterdam (AMS) criteria or revised Bethesda guidelines.

    Methods: The Hereditary Cancer Biobank of the Norwegian Radium Hospital was interrogated to identify individuals with a high risk of developing colorectal cancer (CRC) for whom no pathogenic variants in MMR genes had been found in routine diagnostic DNA sequencing. Read More

    Comprehensive genomic analysis identifies pathogenic variants in maturity-onset diabetes of the young (MODY) patients in South India.
    BMC Med Genet 2018 Feb 13;19(1):22. Epub 2018 Feb 13.
    Department of Molecular Biology, Genentech Inc., 1 DNA Way, South San Francisco, CA, 94080, USA.
    Background: Maturity-onset diabetes of the young (MODY) is an early-onset, autosomal dominant form of non-insulin dependent diabetes. Genetic diagnosis of MODY can transform patient management. Earlier data on the genetic predisposition to MODY have come primarily from familial studies in populations of European origin. Read More

    The impact of down-regulated SK3 expressions on Hirschsprung disease.
    BMC Med Genet 2018 Feb 13;19(1):24. Epub 2018 Feb 13.
    Pediatric Surgery Division, Department of Surgery, Faculty of Medicine, Universitas Gadjah Mada/Dr. Sardjito Hospital, Yogyakarta, 55281, Indonesia.
    Background: Some Hirschsprung's disease (HSCR) patients showed persistent bowel symptoms following an appropriately performed pull-through procedure. The mechanism is presumed to be down-regulated small-conductance calcium-activated potassium channel 3 (SK3) expression in the HSCR ganglionic intestines. We aimed to investigate the SK3 expression's impact in HSCR patients after a properly performed pull-through surgery in an Indonesian population, a genetically distinct group within Asia. Read More

    Validation of genotype imputation in Southeast Asian populations and the effect of single nucleotide polymorphism annotation on imputation outcome.
    BMC Med Genet 2018 Feb 13;19(1):23. Epub 2018 Feb 13.
    Division of Bioinformatics and Data Management for Research, Department of Research and Development, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.
    Background: Imputation involves the inference of untyped single nucleotide polymorphisms (SNPs) in genome-wide association studies. The haplotypic reference of choice for imputation in Southeast Asian populations is unclear. Moreover, the influence of SNP annotation on imputation results has not been examined. Read More

    Identification of two novel null variants in CLN8 by targeted next-generation sequencing: first report of a Chinese patient with neuronal ceroid lipofuscinosis due to CLN8 variants.
    BMC Med Genet 2018 Feb 8;19(1):21. Epub 2018 Feb 8.
    Department of Neurology, Affiliated Children's Hospital of Capital Institute of Pediatrics, No. 2, Yabao Road, Chaoyang District, Beijing, 100020, China.
    Background: Neuronal ceroid lipofuscinoses (NCLs) are one of the most frequent childhood-onset neurodegenerative pathologies characterized by seizures, progressive cognitive decline, motor impairment and loss of vision. For the past two decades, more than 430 variants in 13 candidate genes have been identified in the affected patients. Most of the variants were almost exclusively reported in Western patients, and very little clinical and genetic information was available for Chinese patients. Read More

    Whole exome sequencing of benign pulmonary metastasizing leiomyoma reveals mutation in the BMP8B gene.
    BMC Med Genet 2018 Jan 31;19(1):20. Epub 2018 Jan 31.
    Institute of Clinical Medicine, Department of Obstetrics and Gynaecology, University of Tartu, Tartu, Estonia.
    Background: Benign metastasizing leiomyoma (BML) is an orphan neoplasm commonly characterized by pulmonary metastases consisting of smooth muscle cells. Patients with BML have usually a current or previous uterine leiomyoma, which is therefore suggested to be the most probable source of this tumour. The purpose of this case report was to determine the possible genetic grounds for pulmonary BML. Read More

    A novel compound heterozygous variant of the SLC12A3 gene in Gitelman syndrome pedigree.
    BMC Med Genet 2018 Jan 29;19(1):17. Epub 2018 Jan 29.
    Department of Endocrinology, Zhejiang University School of Medicine Sir Run Run Shaw Hospital, 3 East Qing Chun Road, Zhejiang, Hangzhou, 310016, China.
    Background: Gitelman syndrome (GS) is an autosomal recessive disorder caused by genic mutations of SLC12A3 (Solute carrier family 12 member 3), which encodes the Na-Cl cotransporter (NCC), and presents with characteristic metabolic abnormalities, including hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria. In this study, we report a case of a GS pedigree, including analysis of GS-associated gene mutations.

    Methods: We performed next-generation sequencing analysis and Sanger sequencing to explore the SLC12A3 mutations in a GS pedigree that included a 35-year-old female patient with GS and five family members within three generations. Read More

    Whole exome sequencing reveals a stop-gain mutation of PKD2 in an autosomal dominant polycystic kidney disease family complicated with aortic dissection.
    BMC Med Genet 2018 Jan 30;19(1):19. Epub 2018 Jan 30.
    Department of Vascular Surgery, The Second Affiliated Hospital of Nanchang University, No 1#, Minde Road, Nanchang, Jiangxi, 330006, China.
    Background: Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disorder characterized by progressive cyst formation and expansion in the kidneys, which culminates in end-stage renal disease. Aortic dissection is a rare vascular complication of ADPKD and related literature is currently limited.

    Case Presentation: In this report, we described a patient with asymptomatic Stanford B aortic dissection. Read More

    Inclusion of joint laxity, recurrent patellar dislocation, and short distal ulnae as a feature of Van Den Ende-Gupta syndrome: a case report.
    BMC Med Genet 2018 Jan 30;19(1):18. Epub 2018 Jan 30.
    Department of Genetics, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.
    Background: Van Den Ende-Gupta Syndrome (VDEGS) is an extremely rare autosomal recessive syndrome with less than 20 reported families (approximately 40 patients) in the worldwide literature.

    Case Presentation: We have assessed one consanguineous Saudi family with typical features of VDEGS. Two siblings were affected with almost identical features; including blepharophimosis, arachnodactyly, flexion contractures of the elbows, camptodactyly, slender ribs, hooked lateral clavicular ends, and bilateral radial head dislocations. Read More

    The Alu-insertion progesterone receptor gene polymorphism is not associated with breast cancer: a meta-analysis.
    BMC Med Genet 2018 Jan 25;19(1):16. Epub 2018 Jan 25.
    Cancer Hospital of China Medical University, Liaoning Cancer Hospital & Institute, Shenyang, 110042, People's Republic of China.
    Background: The role of progesterone receptor (PGR) gene polymorphisms in breast cancer is still controversial. Here, we performed a meta-analysis to determine whether the Alu insertion is associated with an increased risk of breast cancer and, further, whether the Alu insertion contributes to the development of breast cancer.

    Methods: Using database searches, we selected 10 controlled case studies that met a rigorous set of inclusion criteria; these studies included 2106 cases and 1660 controls. Read More

    Expanded carrier screening and preimplantation genetic diagnosis in a couple who delivered a baby affected with congenital factor VII deficiency.
    BMC Med Genet 2018 Jan 24;19(1):15. Epub 2018 Jan 24.
    Institute of Reproductive and Stem Cell Engineering, Central South University, Changsha, Hunan, 410078, People's Republic of China.
    Background: Preimplantation genetic diagnosis (PGD) is a powerful tool for preventing the transmission of Mendelian disorders from generation to generation. However, PGD only can identify monogenically inherited diseases, but not other potential monogenic pathologies. We aimed to use PGD to deliver a healthy baby without congenital FVII deficiency or other common Mendelian diseases in a couple in which both individuals carried a deleterious mutation in the F7 gene. Read More

    Birt-Hogg-Dubé syndrome in two Chinese families with mutations in the FLCN gene.
    BMC Med Genet 2018 Jan 22;19(1):14. Epub 2018 Jan 22.
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China.
    Background: Birt-Hogg-Dubé syndrome is an autosomal dominant hereditary condition caused by mutations in the folliculin-encoding gene FLCN (NM_144997). It is associated with skin lesions such as fibrofolliculoma, acrochordon and trichodiscoma; pulmonary lesions including spontaneous pneumothorax and pulmonary cysts and renal cancer.

    Methods: Genomic DNA was extracted from peripheral venous blood samples of the propositi and their family members. Read More

    The association between BDNF Val66Met polymorphism and emotional symptoms after mild traumatic brain injury.
    BMC Med Genet 2018 Jan 22;19(1):13. Epub 2018 Jan 22.
    Program for Neural Regenerative Medicine, College of Medical Science and Technology, Taipei Medical University, Taipei, Taiwan.
    Background: Brain-derived neurotrophic factor (BDNF) is one of the most abundant neurotrophins in the adult brain, and it plays important roles in modulating synaptic plasticity and synaptogenesis. This study attempted to elucidate the role of the BDNF variant rs6265 in emotional symptoms following mild traumatic brain injury (mTBI).

    Methods: To investigate the association between BDNF Val66Met polymorphism (rs6265) and emotional symptoms in mTBI patients, we recruited 192 mTBI patients and evaluated their Beck Anxiety Inventory (BAI) and Beck Depression Inventory (BDI) scores in the first and sixth week after mTBI. Read More

    FANCM and RECQL genetic variants and breast cancer susceptibility: relevance to South Poland and West Ukraine.
    BMC Med Genet 2018 Jan 19;19(1):12. Epub 2018 Jan 19.
    Genetic Epidemiology Laboratory, Department of Pathology, The University of Melbourne, Melbourne, Australia.
    Background: FANCM and RECQL have recently been reported as breast cancer susceptibility genes and it has been suggested that they should be included on gene panel tests for breast cancer predisposition. However, the clinical value of testing for mutations in RECQL and FANCM remains to be determined. In this study, we have characterised the spectrum of FANCM and RECQL mutations in women affected with breast or ovarian cancer from South-West Poland and West Ukraine. Read More

    A case of molecularly profiled extraneural medulloblastoma metastases in a child.
    BMC Med Genet 2018 Jan 17;19(1):10. Epub 2018 Jan 17.
    Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Harvard Institute of Medicine, HIM-921F, 77 Avenue Louis Pasteur, Boston, MA, 02115, USA.
    Background: Extraneural metastases are relatively rare manifestations of medulloblastoma.

    Case Presentation: We present the case of a young boy with group three MYCN-amplified medulloblastoma. He received multimodal chemotherapy consisting of gross total resection followed by postoperative craniospinal radiation and adjuvant chemotherapy. Read More

    Establishing a genetic link between FTO and VDR gene polymorphisms and obesity in the Emirati population.
    BMC Med Genet 2018 Jan 17;19(1):11. Epub 2018 Jan 17.
    Khalifa University Centers of Biotechnology, Khalifa University of Science and Technology, Abu Dhabi, United Arab Emirates.
    Background: Obesity is a metabolic disease that is widely prevalent with approximately 600 million people classified as obese worldwide. Its etiology is multifactorial and involves a complex interplay between genes and the environment. Over the past few decades, obesity rates among the Emirati population have been increasing. Read More

    Associations of the hypertension-related single nucleotide polymorphism rs11191548 with high-density lipoprotein cholesterol and leptin in Chinese children.
    BMC Med Genet 2018 Jan 16;19(1). Epub 2018 Jan 16.
    Department of Epidemiology, Capital Institute of Pediatrics, No. 2 Yabao Road, Chaoyang District, Beijing, 100020, China.
    Background: The genome-wide association study has founded hypertension-related single nucleotide polymorphism (SNP) rs11191548 near CYP17A1 encoding a key enzyme involved in steroid metabolism, but the molecular mechanisms are not understood and the associations of the SNP with hypertension-related traits are not fully described, especially in children. The aim of the present study is to investigate the associations between the SNP and two hypertension-related traits, lipids and leptin.

    Methods: We genotyped the SNP in Beijing Child and Adolescent Metabolic Syndrome (BCAMS) study. Read More

    Bilateral giant retinal tears in Osteogenesis Imperfecta.
    BMC Med Genet 2018 Jan 12;19(1). Epub 2018 Jan 12.
    Great Ormond Street Hospital, WC1N 3JH, London, UK.
    Background: Osteogenesis imperfecta (OI) is a rare primarily autosomal dominant condition in which the connective tissues of bones, ligaments and sclerae do not form properly. Typically, mutations in COL1A1 and COL1A2 genes lead to the defective formation or quantity of type I collagen, the principle matrix in these tissues. Molecular genetic studies have now elucidated multiple genetic subtypes of the disorder but little literature exists on the risk of retinal tears and detachments in OI. Read More

    Fanconi anemia with sun-sensitivity caused by a Xeroderma pigmentosum-associated missense mutation in XPF.
    BMC Med Genet 2018 Jan 11;19(1). Epub 2018 Jan 11.
    Department of Human Genetics, Biozentrum, University of Wurzburg, Am Hubland, 97074, Wurzburg, Germany.
    Background: Fanconi anemia (FA) is an inherited genomic instability disorder with congenital and developmental abnormalities, bone marrow failure and predisposition to cancer early in life, and cellular sensitivity to DNA interstrand crosslinks.

    Case Presentation: A fifty-one-year old female patient, initially diagnosed with FA in childhood on the basis of classic features and increased chromosomal breakage, and remarkable sun-sensitivity is described. She only ever had mild haematological abnormalities and no history of malignancy. Read More

    Correction to: Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China.
    BMC Med Genet 2018 Jan 9;19(1). Epub 2018 Jan 9.
    Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University, Henan Engineering Research Center for Gene Editing of Human Genetic Disease, Jianshe Rd, Erqi District, Zhengzhou, Henan, 450052, People's Republic of China.
    Following publication of the original article [1], the authors reported an error in Table 3 on page 4. Variant No. 18 should be " p. Read More

    A novel compound heterozygous variant identified in GLDC gene in a Chinese family with non-ketotic hyperglycinemia.
    BMC Med Genet 2018 Jan 5;19(1). Epub 2018 Jan 5.
    Neonatal Disease Screening Center of Quanzhou, Quanzhou Women's and Children's Hospital, 700 Fengze Street, Quanzhou, Fujian Province, 362000, China.
    Background: Non-ketotic hyperglycinemia (NKH) is a rare, devastating autosomal recessive disorder of glycine metabolism with a very poor prognosis. Currently, few studies have reported genetic profiling of Chinese NKH patients. This study aimed to identify the genetic mutations in a Chinese family with NKH. Read More

    Quality of life scores differs between genotypic groups of patients with suspected hereditary hemochromatosis.
    BMC Med Genet 2018 Jan 5;19(1). Epub 2018 Jan 5.
    Laboratory of Genetics and Molecular Cardiology, Heart Institute (InCor), University of São Paulo Medical School, Av. Doutor Enéas de Carvalho Aguiar, 44-Cerqueira César, São Paulo, 05403 900, Brazil.
    Background: Hereditary hemochromatosis (HH) encompasses a group of autosomal recessive disorders mainly characterized by enhanced intestinal absorption of iron and its accumulation in parenchymal organs. HH diagnosis is based on iron biochemical and magnetic resonance imaging (MRI) assessment, and genetic testing. Questionnaires, such as SF-36 (short form health survey), have been increasingly used to assess the impact of diseases on the patient's quality of life (QL). Read More

    Effect of GRM7 polymorphisms on the development of noise-induced hearing loss in Chinese Han workers: a nested case-control study.
    BMC Med Genet 2018 Jan 5;19(1). Epub 2018 Jan 5.
    Henan Provincial Institute for Occupational Health, No.3, Kangfu Mid. St, Zhengzhou, 450052, People's Republic of China.
    Background: Noise-induced hearing loss (NIHL) is a complex, irreversible disease caused by the interaction of genetic and environmental factors. In recent years, a great many studies have been done to explore the NIHL susceptibility genes among humans. So far, high powerful detections have been founded that genes of potassium ion channel genes (KCNQ4 and KCNE1), catalase (CAT), protocadherin 15 (PCDH15), myosin 14 (MYH14) and heart shock protein (HSP70) which have been identified in more than one population may be associated with the susceptibility to NIHL. Read More

    HLA class I (-A, -B, -C) and class II (-DR, -DQ) polymorphism in the Mauritanian population.
    BMC Med Genet 2018 Jan 3;19(1). Epub 2018 Jan 3.
    Unité de Recherche sur les Biomarqueurs dans la Population Mauritanienne, Université des Sciences de Technologies et de médecine (USTM), Nouakchott, Mauritanie.
    Background: HLA antigens have been widely studied for their role in transplantation biology, human diseases and population diversity. The aim of this study was to provide the first profile of HLA class I and class II alleles in the Mauritanian population.

    Methods: HLA typing was carried in 93 healthy Mauritanian blood donors, using single specific primer amplification (PCR-SSP). Read More

    Cardiac manifestations of PRKAG2 mutation.
    BMC Med Genet 2018 Jan 3;19(1). Epub 2018 Jan 3.
    Division of Cardiology, Department of Internal Medicine, David Geffen School of Medicine at UCLA, 675 Charles E Young Dr. S. Room 3760, Los Angeles, CA, 90095, USA.
    Background: The Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2 (PRKAG2) cardiac syndrome is characterized by glycogen accumulation in the cardiac tissue. The disease presents clinically with hypertrophic cardiomyopathy (HCM), and it is often associated with conduction abnormalities.

    Case Presentation: A 23 year-old female with history of Wolff-Parkinson-White (WPW) and HCM presented for evaluation after an episode of Non-ST Elevation Myocardial Infarction (NSTEMI). Read More

    Whole-exome sequencing identified a missense mutation in WFS1 causing low-frequency hearing loss: a case report.
    BMC Med Genet 2017 12 19;18(1):151. Epub 2017 Dec 19.
    Department of Otorhinolaryngology, Brain Korea 21 PLUS Project for Medical Sciences, Yonsei University College of Medicine, Seoul, 03722, South Korea.
    Background: Low-frequency nonsyndromic hearing loss (LF-NSHL) is a rare, inherited disorder. Here, we report a family with LF-NSHL in whom a missense mutation was found in the Wolfram syndrome 1 (WFS1) gene.

    Case Presentation: Family members underwent audiological and imaging evaluations, including pure tone audiometry and temporal bone computed tomography. Read More

    Correction to: 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 12 16;18(1):150. Epub 2017 Dec 16.
    Department of Medical Genetics, University of Pécs, Szigeti út 12, Pécs, H-7624, Hungary.
    Following publication of the original article [1], the authors requested a correction to the details of one of the co-authors. Read More

    Delayed-onset of progressive pseudorheumatoid dysplasia in a Chinese adult with a novel compound WISP3 mutation: a case report.
    BMC Med Genet 2017 12 15;18(1):149. Epub 2017 Dec 15.
    Department of Rheumatology and Immunology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200025, China.
    Background: Progressive pseudorheumatoid dysplasia (PPD) is a rare autosomal recessive genetic disease that is characterized by pain, stiffness and enlargement of multiple joints with an age of onset between 3 and 8 years old. Mutations in the WISP3 (Wnt1-inducible signal pathway) gene are known to be the cause of PPD.

    Case Presentation: We present a case of delayed-onset PPD in a Chinese man. Read More

    A donor splice site mutation in CISD2 generates multiple truncated, non-functional isoforms in Wolfram syndrome type 2 patients.
    BMC Med Genet 2017 12 13;18(1):147. Epub 2017 Dec 13.
    Cardiovascular Research Unit, IRCCS MultiMedica, Via G. Fantoli 16/15, 20138, Milan, Italy.
    Background: Mutations in the gene that encodes CDGSH iron sulfur domain 2 (CISD2) are causative of Wolfram syndrome type 2 (WFS2), a rare autosomal recessive neurodegenerative disorder mainly characterized by diabetes mellitus, optic atrophy, peptic ulcer bleeding and defective platelet aggregation. Four mutations in the CISD2 gene have been reported. Among these mutations, the homozygous c. Read More

    Identification and in silico characterization of a novel p.P208PfsX1 mutation in V-ATPase a3 subunit associated with autosomal recessive osteopetrosis in a Pakistani family.
    BMC Med Genet 2017 12 13;18(1):148. Epub 2017 Dec 13.
    Institute of Biomedical and Genetic Engineering, 24-Mauve area, G-9/1, Islamabad, 44000, Pakistan.
    Background: Osteopetrosis is a rare inherited bone disorder mainly described as an increased bone density caused by defective osteoclastic bone resorption. To date, genetic variants of eleven genes have been reported so far to be associated with different types of osteopetrosis. However, malignant infantile osteopetrosis, a lethal form of the disease, is mostly (50%) caused by mutation(s) in TCIRG1 gene. Read More

    The gene-treatment interaction of paraoxonase-1 gene polymorphism and statin therapy on insulin secretion in Japanese patients with type 2 diabetes: Fukuoka diabetes registry.
    BMC Med Genet 2017 12 12;18(1):146. Epub 2017 Dec 12.
    Department of Medicine and Clinical Science, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan.
    Background: Although statins deteriorate glucose metabolism, their glucose-lowering effects have emerged in some situations. Here, we assessed whether these effects are a consequence of statins' interaction with paraoxonase (PON)1 enzyme polymorphism.

    Methods: Adult Japanese type 2 diabetes patients (n = 3798) were enrolled in a cross-sectional study. Read More

    Exploring digenic inheritance in arrhythmogenic cardiomyopathy.
    BMC Med Genet 2017 12 8;18(1):145. Epub 2017 Dec 8.
    Institute for Biomedicine, Eurac Research, Affiliated Institute of the University of Lübeck, Bolzano, Italy.
    Background: Arrhythmogenic cardiomyopathy (ACM) is an inherited genetic disorder, characterized by the substitution of heart muscle with fibro-fatty tissue and severe ventricular arrhythmias, often leading to heart failure and sudden cardiac death. ACM is considered a monogenic disorder, but the low penetrance of mutations identified in patients suggests the involvement of additional genetic or environmental factors.

    Methods: We used whole exome sequencing to investigate digenic inheritance in two ACM families where previous diagnostic tests have revealed a PKP2 mutation in all affected and some healthy individuals. Read More

    Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical features.
    BMC Med Genet 2017 12 6;18(1):144. Epub 2017 Dec 6.
    Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, BMC Box815, 751 08, Uppsala, Sweden.
    Background: Spinocerebellar ataxias comprise a large and heterogeneous group of disorders that may present with isolated ataxia, or ataxia in combination with other neurologic or non-neurologic symptoms. Monoallelic or biallelic GRID2 mutations were recently reported in rare cases with cerebellar syndrome and variable degree of ataxia, ocular symptoms, hypotonia and developmental delay.

    Case Presentation: We report on a consanguineous family with autosomal recessive childhood onset of slowly progressive cerebellar ataxia and delayed psychomotor development in three siblings. Read More

    ACTA2 mutation and postpartum hemorrhage: a case report.
    BMC Med Genet 2017 12 4;18(1):143. Epub 2017 Dec 4.
    Department Obstetrics, Gynecology and Reproductive Sciences, Burlington, VT, 05401, USA.
    Background: ACTA2 encodes smooth muscle specific α-actin, a critical component or the contractile complex of vascular smooth muscle. Mutations in ACTA2 are the most common genetic cause of thoracic aortic aneurysm, and are also the cause of other disorders, including Moyamoya disease, coronary artery disease and stroke as well as Multisystemic Smooth Muscle Dysfunction Syndrome. We note that ACTA2 is also expressed in uterine smooth muscle, and this raises the possibility that women harboring ACTA2 mutations might exhibit uterine smooth muscle dysfunction. Read More

    Whole exome sequencing identifies TRIOBP pathogenic variants as a cause of post-lingual bilateral moderate-to-severe sensorineural hearing loss.
    BMC Med Genet 2017 12 2;18(1):142. Epub 2017 Dec 2.
    Department of Medical Genetics, Warsaw Medical University, Pawinskiego 3c, Warsaw, 02-106, Poland.
    Background: Implementation of whole exome sequencing has provided unique opportunity for a wide screening of causative variants in genetically heterogeneous diseases, including nonsyndromic hearing impairment. TRIOBP in the inner ear is responsible for proper structure and function of stereocilia and is necessary for sound transduction.

    Methods: Whole exome sequencing followed by Sanger sequencing was conducted on patients derived from Polish hearing loss family. Read More

    Severe congenital microcephaly with 16p13.11 microdeletion combined with NDE1 mutation, a case report and literature review.
    BMC Med Genet 2017 12 1;18(1):141. Epub 2017 Dec 1.
    Clinical Research Center, Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science & Technology, Wuhan, 430016, China.
    Background: Microcephaly is a disorder characterized by severe impairment in brain development, reduced brain and head size. Congenital severe microcephaly is very rare, and NDE1 deletion and genetic mutations are important contributors.

    Case Presentation: Single nucleotide polymorphism (SNP) chromosomal microarray analysis (CMA) and muation screening of NDE1 gene were performed in an 8-month patient with severe congenital microcephaly, and/or his parents. Read More

    A new panel of SNPs to assess thyroid carcinoma risk: a pilot study in a Brazilian admixture population.
    BMC Med Genet 2017 11 25;18(1):140. Epub 2017 Nov 25.
    Department of Clinical Analysis and Toxicology of Federal University of Rio Grande do Norte, Rua General Gustavo Cordeiro de Farias s/n, CEP 59012-570, Natal, Rio Grande do Norte, Brazil.
    Background: Thyroid cancer is a common malignant disease of the endocrine system with increasing incidence rates over the last few decades. In this study, we sought to analyze the possible association of 45 single nucleotide polymorphisms (SNPs) with thyroid cancer in a population from Rio Grande do Norte, Brazil.

    Methods: Based on histological analysis by a pathologist, 80 normal thyroid specimens of tissue adjacent to thyroid tumors were obtained from the biobank at the Laboratory of Pathology of Liga Norte Riograndense Contra o Câncer, Natal, RN. Read More

    Prevalence, genetic variants and clinical implications of G-6-PD deficiency in Burkina Faso: a systematic review.
    BMC Med Genet 2017 11 23;18(1):139. Epub 2017 Nov 23.
    Pietro Annigoni Biomolecular Research Center (CERBA), 01 PO BOX 364, Ouagadougou 01, Burkina Faso.
    Background: It is now well-known that some antimalarials such as primaquine may induce severe hemolytic anemia in people with G-6-PD deficiency. Antimalarial drug prescriptions must, therefore take into account the patient's G-6-PD status in malaria endemic areas such as Burkina Faso, where the prevalence of this genetic abnormality is relatively high. Although great clinical heterogeneity is observed depending on the molecular nature of the deficiency and the residual enzyme activity in the red blood cell, there is very poor data on the prevalence of G-6-PD deficiency and the distribution of involved genetic variants in Burkina Faso. Read More

    Association of common genetic variants related to atrial fibrillation and the risk of ventricular fibrillation in the setting of first ST-elevation myocardial infarction.
    BMC Med Genet 2017 11 21;18(1):138. Epub 2017 Nov 21.
    Department of Cardiology, Rigshospitalet, Copenhagen University Hospital, Blegdamsvej 9, 2100, Copenhagen Ø, Denmark.
    Background: Cohort studies have revealed an increased risk for ventricular fibrillation (VF) and sudden cardiac death (SCD) in patients with atrial fibrillation (AF). In this study, we hypothesized that single nucleotide polymorphisms (SNP) previously associated with AF may be associated with the risk of VF caused by first ST-segment elevation myocardial infarction (STEMI).

    Methods: We investigated association of 24 AF-associated SNPs with VF in the prospectively assembled case-control study among first STEMI-patients of Danish ancestry. Read More

    Novel intragenic deletions within the UBE3A gene in two unrelated patients with Angelman syndrome: case report and review of the literature.
    BMC Med Genet 2017 11 21;18(1):137. Epub 2017 Nov 21.
    Genetics Laboratory, UDIAT-Centre Diagnòstic, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí I3PT, Universitat Autònoma de Barcelona, Parc del Taulí 1, 08208, Barcelona, Sabadell, Spain.
    Background: Patients with Angelman syndrome (AS) are affected by severe intellectual disability with absence of speech, distinctive dysmorphic craniofacial features, ataxia and a characteristic behavioral phenotype. AS is caused by the lack of expression in neurons of the UBE3A gene, which is located in the 15q11.2-q13 imprinted region. Read More

    Breast cancer protection by genomic imprinting in close kin families.
    BMC Med Genet 2017 11 21;18(1):136. Epub 2017 Nov 21.
    Department of Pathology, California University of Science and Medicine, 217 E Club Center Drive, San Bernardino, CA, 92408, USA.
    Human inbreeding generally reduces breast cancer risk (BCR). When the parents are biologically related, their infants have a lower birth weight due to smaller body organs. The undersized breasts, because of fewer mammary stem cells, have a lower likelihood of malignant conversion. Read More

    Characterization of a novel splicing mutation in UNC13D gene through amplicon sequencing: a case report on HLH.
    BMC Med Genet 2017 11 21;18(1):135. Epub 2017 Nov 21.
    School of Nursing, Zhengzhou University, Zhengzhou, Henan, 450052, China.
    Background: Hemophagocytic lymphohistiocytosis (HLH) is a rare but fatal disease caused by uncontrolled proliferation of activated lymphocytes and macrophages. Six genes including SH2D1A, PRF1, UNC13D, STX11, STXBP2 and XIAP were reported as causative genes in most cases.

    Case Presentation: Here we report a novel splicing mutation in UNC13D gene, which was identified in an 18-year-old female. Read More

    First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations.
    BMC Med Genet 2017 11 17;18(1):134. Epub 2017 Nov 17.
    Service des Maladies Congénitales et Héréditaires, CHU Mongi Slim La Marsa, Sidi Daoud La Marsa, 2046, Tunis, Tunisia.
    Background: Cohen syndrome is a rare autosomal recessive developmental disorder that comprises variable clinical features counting developmental delay, pigmentary retinopathy, myopia, acquired microcephaly, truncal obesity, joint hypermobility, friendly disposition and intermittent neutropenia. VPS13B (vacuolar protein sorting 13, yeast, homologue of B) gene is the only gene responsible for Cohen Syndrome, causative mutations include nonsense, missense, indel and splice-site variants. The integrity of the Golgi apparatus requires the presence of the peripheral membrane protein VPS13B that have an essential function in intracellular protein transport and vesicle-mediated sorting. Read More

    Effect of a rare genetic variant of TM7SF4 gene on osteoclasts of patients with Paget's disease of bone.
    BMC Med Genet 2017 11 16;18(1):133. Epub 2017 Nov 16.
    CHU de Québec-Université Laval Research Centre, Quebec, QC, Canada.
    Background: Dendritic Cell-Specific Transmembrane Protein (DC-STAMP) is involved in osteoclastogenesis with a key role in mononucleated osteoclasts fusion. We reported in patients with Paget's disease of bone (PDB) a rare variant (rs62620995) in the TM7SF4 gene, encoding for DC-STAMP, which changes a highly conserved amino acid, possibly damaging according to in silico predictions. This study aimed at determining the functional effects of this variant on osteoclast phenotype in PDB. Read More

    An intronic single-nucleotide polymorphism (rs13217795) in FOXO3 is associated with asthma and allergic rhinitis: a case-case-control study.
    BMC Med Genet 2017 11 15;18(1):132. Epub 2017 Nov 15.
    Department of Pharmacology, School of Medicine, The University of Jordan, Queen Rania Al-Abdullah Street, Amman, 11942, Jordan.
    Background: Asthma and allergic rhinitis are respiratory diseases with a significant global burden. Forkhead box O3 (FOXO3) is a gene involved in the etiology of a number of respiratory diseases. The objective of this study is to assess the association of rs13217795, an intronic FOXO3 single-nucleotide polymorphism, with asthma and allergic rhinitis. Read More

    Clinical and molecular genetic characterization of familial MECP2 duplication syndrome in a Chinese family.
    BMC Med Genet 2017 11 15;18(1):131. Epub 2017 Nov 15.
    Beijing Municipal Key Laboratory of Child Development and Nutriomics, Capital Institute of Pediatrics, Room 616, NO. 2, Yabao Road, Chaoyang District, Beijing, 100020, China.
    Background: Chromosomal duplication at the Xq28 region including the MECP2 gene, share consistent clinical phenotypes and a distinct facial phenotype known as MECP2 duplication syndrome. The typical clinical features include infantile hypotonia , mild dysmorphic features, a broad range of neurodevelopmental disorders, recurrent infections, and progressive spasticity.

    Methods: This Chinese MECP2 duplication syndrome family includes six patients (five males and one female), and four asymptomatic female carriers. Read More

    Sanger sequencing in exonic regions of STK11 gene uncovers a novel de-novo germline mutation (c.962_963delCC) associated with Peutz-Jeghers syndrome and elevated cancer risk: case report of a Chinese patient.
    BMC Med Genet 2017 11 15;18(1):130. Epub 2017 Nov 15.
    Department of Medical Genetics, Naval Medical University, 800 Xiangyin Rd, Shanghai, 200433, China.
    Background: Peutz-Jeghers syndrome (PJS) is caused by mutations in the tumor suppressor gene, STK11, and is characterized by gastrointestinal hamartomas, melanin spots on the lips and the extremities, and an increased risk of developing cancer.

    Case Presentation: We reported an isolated PJS patient who died of colon cancer, whose blood sample was collected together with all the available family members'. The entire coding region of the STK11 gene was amplified by PCR and analyzed by Sanger sequencing, through which, a novel mutation, c. Read More

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