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    Breast cancer protection by genomic imprinting in close kin families.
    BMC Med Genet 2017 Nov 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 Nov 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 Nov 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 Nov 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 Nov 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 Nov 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 Nov 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

    COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA.
    BMC Med Genet 2017 Nov 14;18(1):129. Epub 2017 Nov 14.
    deCODE Genetics/Amgen, Inc, Sturlugata 8, 101, Reykjavik, Iceland.
    Background: Rare missense mutations in the gene encoding coatomer subunit alpha (COPA) have recently been shown to cause autoimmune interstitial lung, joint and kidney disease, also known as COPA syndrome, under a dominant mode of inheritance.

    Case Presentation: Here we describe an Icelandic family with three affected individuals over two generations with a rare clinical presentation of lung and joint disease and a histological diagnosis of follicular bronchiolitis. We performed whole-genome sequencing (WGS) of the three affected as well as three unaffected members of the family, and searched for rare genotypes associated with disease using 30,067 sequenced Icelanders as a reference population. Read More

    Association of NOS3 gene polymorphisms with essential hypertension in Sudanese patients: a case control study.
    BMC Med Genet 2017 Nov 13;18(1):128. Epub 2017 Nov 13.
    Department of Biochemistry, Faculty of Medicine, University of Khartoum, P.O. Box: 102, Khartoum, Sudan.
    Background: Essential hypertension (EH) is influenced by various environmental and genetic factors. Nitric oxide is important for the functional integrity of the vascular endothelium and is produced in endothelial cells by the enzyme endothelial nitric oxide synthase (eNOS). EH has a strong genetic component, and the NOS3 gene, which encodes eNOS, represents an interesting candidate for contribution to the phenotype. Read More

    The three CYBA variants (rs4673, rs1049254 and rs1049255) are benign: new evidence from a patient with CGD.
    BMC Med Genet 2017 Nov 13;18(1):127. Epub 2017 Nov 13.
    Department of Clinical Immunology, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102, China.
    Background: Chronic granulomatous disease (CGD) is an inherited immunodeficiency disease caused by the defect of NADPH oxidase. Mutations in CYBB or CYBA gene may result in membrane subunits, gp91phox or p22phox, expression failure respectively and NADPH oxidase deficiency. Previous study showed that three variants, c. Read More

    A genotype-phenotype study of hereditary multiple exostoses in forty-six Chinese patients.
    BMC Med Genet 2017 Nov 10;18(1):126. Epub 2017 Nov 10.
    Institute of Pediatric Translational Medicine, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, China.
    Background: Hereditary multiple exostoses (HME) is a rare autosomal dominant skeletal disorder that can cause a variety of clinical manifestations. We aimed to evaluate the general clinical phenotypic severity of HME by using a scoring system and correlate the genotypes with different clinical phenotypes in Chinese patients.

    Methods: Forty-six patients from different families were prospectively enrolled. Read More

    Phenotypic and genotypic aspects of Townes-Brock syndrome: case report of patient in southern Brazil with a new SALL1 hotspot region nonsense mutation.
    BMC Med Genet 2017 Nov 6;18(1):125. Epub 2017 Nov 6.
    Department of Internal Medicine (Nephrology), St. Louis University School of Medicine, and St. Louis VA Medical Center, St. Louis, USA.
    Background: Townes-Brocks syndrome (TBS) is a rare autosomal dominant condition characterized by renal, anal, limb, and auditory abnormalities. TBS diagnosis can be challenging in settings where genetic analysis is not readily available. TBS traits overlap with those of Goldenhar and VACTERL syndromes. Read More

    Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease.
    BMC Med Genet 2017 Nov 2;18(1):124. Epub 2017 Nov 2.
    Center for Pediatric Genomic Medicine, Children's Mercy Hospital, 2420 Pershing Road, Kansas City, MO, 64108, USA.
    Background: Defects in the human glycosylphosphatidylinositol anchor biosynthetic pathway are associated with inherited glycosylphosphatidylinositol (GPI)-deficiencies characterized by a broad range of clinical phenotypes including multiple congenital anomalies, dysmorphic faces, developmental delay, hypotonia, and epilepsy. Biallelic variants in PIGN, encoding phosphatidylinositol-glycan biosynthesis class N have been recently associated with multiple congenital anomalies hypotonia seizure syndrome.

    Case Presentation: Our patient is a 2 year old male with hypotonia, global developmental delay, and focal epilepsy. Read More

    The RS4939827 polymorphism in the SMAD7 GENE and its association with Mediterranean diet in colorectal carcinogenesis.
    BMC Med Genet 2017 Oct 30;18(1):122. Epub 2017 Oct 30.
    CIBER Epidemiología y Salud Pública (CIBERESP), Madrid, Spain.
    Background: The objective of our investigation is to study the relationship between the rs4939827 SNP in the SMAD7 gene, Mediterranean diet pattern and the risk of colorectal cancer.

    Methods: We examined 1087 cases of colorectal cancer and 2409 population controls with available DNA samples from the MCC-Spain study, 2008-2012. Descriptive statistical analyses, and multivariate logistic mixed models were performed. Read More

    No association between the progesterone receptor gene polymorphism (+331G/a) and the risk of breast cancer: an updated meta-analysis.
    BMC Med Genet 2017 Oct 30;18(1):123. Epub 2017 Oct 30.
    Cancer Hospital of China Medical University, Liaoning Cancer Hospital & Institute, Shenyang, 110042, People's Republic of China.
    Background: Many published studies have estimated the association between the +331G/A (rs10895068) polymorphism in the progesterone receptor (PgR) gene and breast cancer risk. However, the results remain inconsistent and controversial. To address this inconsistency, we systematically interrogated the aforementioned association via a meta-analysis. Read More

    HDR syndrome with a novel mutation in GATA3 mimicking a congenital X-linked stapes gusher: a case report.
    BMC Med Genet 2017 Oct 26;18(1):121. Epub 2017 Oct 26.
    Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul, 06351, Korea.
    Background: Hypoparathyroidism, sensorineural hearing loss, and renal disease (HDR) syndrome, also known as Barakat syndrome, is a rare genetic disorder with high phenotypic heterogeneity caused by haploinsufficiency of the GATA3 gene on chromosome 10p14-p15. For these reasons, the diagnosis of HDR syndrome is challenging and requires a high index of suspicion as well as genetic analysis.

    Case Presentation: A 14-month-old boy, with sensorineural hearing loss in both ears, showed typical radiological features of X-linked stapes gusher on preoperative temporal bone computed tomography (CT) for cochlear implantations. Read More

    17q23.2q23.3 de novo duplication in association with speech and language disorder, learning difficulties, incoordination, motor skill impairment, and behavioral disturbances: a case report.
    BMC Med Genet 2017 Oct 25;18(1):119. Epub 2017 Oct 25.
    Division of Clinical Genetics and Metabolic Disorders, Department of Pediatrics, Tawam Hospital, Al-Ain, United Arab Emirates.
    Background: Chromosomal rearrangements involving 17q23 have been described rarely. Deletions at 17q23.1q23. Read More

    Lack of associations of the opioid receptor mu 1 (OPRM1) A118G polymorphism (rs1799971) with alcohol dependence: review and meta-analysis of retrospective controlled studies.
    BMC Med Genet 2017 Oct 26;18(1):120. Epub 2017 Oct 26.
    Department of Anesthesia, Critical Care and Pain Medicine, Massachusetts General Hospital, Harvard Medical School, Harvard University, 55 Fruit Street, Boston, MA, 02114-3117, USA.
    Background: Studies have sought associations of the opioid receptor mu 1 (OPRM1) A118G polymorphism (rs1799971) with alcohol-dependence, but findings are inconsistent. We summarize the information as to associations of rs1799971 (A > G) and the alcohol-dependence.

    Methods: Systematically, we reviewed related literatures using the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guideline. Read More

    De novo chromosome 7q36.1q36.2 triplication in a child with developmental delay, growth failure, distinctive facial features, and multiple congenital anomalies: a case report.
    BMC Med Genet 2017 Oct 23;18(1):118. Epub 2017 Oct 23.
    Division of Clinical Genetics and Metabolic Disorders, Pediatric Department, Tawam Hospital, Al-Ain, United Arab Emirates.
    Background: Studying human genome using chromosomal microarrays has significantly improved the accuracy and yield of diagnosing genomic disorders. Chromosome 7q36 deletions and duplications are rare genomic disorders that have been reported in a limited number of children with developmental delay, growth retardation, and congenital malformation. Altered dosage of SHH and HLXB9, both located in 7q36. Read More

    Sustained endocrine profiles of a girl with WAGR syndrome.
    BMC Med Genet 2017 Oct 23;18(1):117. Epub 2017 Oct 23.
    Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, 812-8582, Japan.
    Background: Wilms tumor, aniridia, genitourinary anomalies and mental retardation (WAGR) syndrome is a rare genetic disorder caused by heterozygous deletions of WT1 and PAX6 at chromosome 11p13. Deletion of BDNF is known eto be associated with hyperphagia and obesity in both humans and animal models; however, neuroendocrine and epigenetic profiles of individuals with WAGR syndrome remain to be determined.

    Case Presentation: We report a 5-year-old girl with the typical phenotype of WAGR syndrome. Read More

    Non-syndromic cardiac progeria in a patient with the rare pathogenic p.Asp300Asn variant in the LMNA gene.
    BMC Med Genet 2017 Oct 18;18(1):116. Epub 2017 Oct 18.
    Center for Cardiovascular Genetics, Institute of Molecular Medicine, University of Texas Health Sciences Center at Houston, 6770 Bertner Street, DAC900, Houston, TX, 77030, USA.
    Background: Mutations in LMNA gene, encoding Lamin A/C, cause a diverse array of phenotypes, collectively referred to as laminopathies. The most common manifestation is dilated cardiomyopathy (DCM), occurring in conjunction with variable skeletal muscle involvement but without involvement of the coronary arteries. Much less commonly, LMNA mutations cause progeroid syndromes, whereby an early-onset coronary artery disease (CAD) is the hallmark of the disease. Read More

    Sequence variants identification at the KCNQ1OT1:TSS differentially Methylated region in isolated omphalocele cases.
    BMC Med Genet 2017 Oct 18;18(1):115. Epub 2017 Oct 18.
    Division of Pathology, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico; Department of Pathophysiology & Transplantation, Università degli Studi di Milano, Milan, Italy.
    Background: Omphalocele is a congenital midline ventral body wall defect that can exist as isolated malformation or as part of a syndrome. It can be considered one of the major and most frequent clinical manifestation of Beckwith-Wiedemann Syndrome (BWS) in case of loss of methylation at KCNQ1OT1: Transcription Star Site-Differentially Methylated Region (TSS-DMR) or in presence of CDKN1C mutations. The isolated form of the omphalocele accounts approximately for about the 14% of the total cases and its molecular etiology has never been fully elucidated. Read More

    "Homozygous, and compound heterozygous mutation in 3 Turkish family with Jervell and Lange-Nielsen syndrome: case reports".
    BMC Med Genet 2017 Oct 16;18(1):114. Epub 2017 Oct 16.
    Department of Histology& Embryology, Near East University, Faculty of Medicine, Nicosia, North, Cyprus.
    Background: Jervell and Lange-Nielsen syndrome (JLNS) isa recessive model of long QT syndrome which might also be related to possible hearing loss. Although the syndrome has been demonstrated to be originated from homozygous or compound heterozygous mutations in either the KCNQ1 or KCNE1 genes, additional mutations in other genetic loci should be considered, particularly in malignant course patients.

    Case Presentations: Three patients were admitted into hospital due to recurrent seizures/syncope, intrauterine and postnatal bradycardia respectively; moreover all three patients had congenital sensorineural hearing-loss. Read More

    Relationship between interpersonal sensitivity and leukocyte telomere length.
    BMC Med Genet 2017 Oct 10;18(1):112. Epub 2017 Oct 10.
    Department of Psychiatry, Yamagata University School of Medicine, 2-2-2 Iidanishi, Yamagata, 990-9585, Japan.
    Background: Telomeres are repetitive DNA sequences located at the ends of chromosomes, and telomere length represents a biological marker for cellular aging. Interpersonal sensitivity, excessive sensitivity to the behavior and feelings of others, is one of the vulnerable factors to depression. In the present study, we examined the effect of interpersonal sensitivity on telomere length in healthy subjects. Read More

    Characterization of a novel KCNJ2 sequence variant detected in Andersen-Tawil syndrome patients.
    BMC Med Genet 2017 Oct 10;18(1):113. Epub 2017 Oct 10.
    Institute of Legal Medicine, University Hospital Frankfurt, Goethe University, Kennedyallee 104, D-60596, Frankfurt, Germany.
    Background: Mutations in the KCNJ2 gene encoding the ion channel Kir2.1 have been linked to the Andersen-Tawil syndrome (ATS). Molecular genetic screening performed in a family exhibiting clinical ATS phenotypes unmasked a novel sequence variant (c. Read More

    A novel compound mutation in GLRA1 cause hyperekplexia in a Chinese boy- a case report and review of the literature.
    BMC Med Genet 2017 Oct 6;18(1):110. Epub 2017 Oct 6.
    Department of Pediatrics, The First Hospital of China Medical University, No. 155 Nanjing North Street, Heping District, Shenyang, 110001, Liaoning Province, People's Republic of China.
    Background: The pathogenesis of hereditary hyperekplexia is thought to involve abnormalities in the glycinergic neurotransmission system, the most of mutations reported in GLRA1. This gene encodes the glycine receptor α1 subunit, which has an extracellular domain (ECD) and a transmembrane domain (TMD) with 4 α-helices (TM1-TM4).

    Case Presentation: We investigated the genetic cause of hyperekplexia in a Chinese family with one affected member. Read More

    Gender differences in the prevalence of congenital heart disease in Down's syndrome: a brief meta-analysis.
    BMC Med Genet 2017 Oct 6;18(1):111. Epub 2017 Oct 6.
    Círculo do Coração de Pernambuco, Recife, Pernambuco, Brazil.
    Background: Down's syndrome (DS) affects one per 700 live births and congenital heart disease (CHD) occurs in 40-60% of these patients. Contributing factors to the association between DS and CHD are being unraveled. Gender could be one of them. Read More

    Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China.
    BMC Med Genet 2017 Oct 5;18(1):108. Epub 2017 Oct 5.
    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.
    Background: Phenylketonuria (PKU), which primarily results from a deficiency of phenylalanine hydroxylase (PAH), is one of the most common inherited inborn errors of metabolism that impairs postnatal cognitive development. The incidence of various PAH variations differs by race and ethnicity. The aim of the present study was to characterize the PAH gene variants of a Han population from Northern China. Read More

    Pilot study indicate role of preferentially transmitted monoamine oxidase gene variants in behavioral problems of male ADHD probands.
    BMC Med Genet 2017 Oct 5;18(1):109. Epub 2017 Oct 5.
    Manovikas Biomedical Research and Diagnostic Centre, 482, Madudah, Plot: I-24, Sector-J, Manovikas Kendra, E.M. Bypass, Kolkata, 700 107, India.
    Background: Attention deficit hyperactivity disorder (ADHD) is an etiologically complex childhood onset neurobehavioral disorder characterized by age-inappropriate inattention, hyperactivity, and impulsivity. Symptom severity varies widely and boys are diagnosed more frequently than girls. ADHD probands were reported to have abnormal transmissions of dopamine, serotonin, and/or noradrenaline. Read More

    Analysis of SNP-SNP interactions and bone quantitative ultrasound parameter in early adulthood.
    BMC Med Genet 2017 Oct 3;18(1):107. Epub 2017 Oct 3.
    Arthritis Research UK Centre for Genetics and Genomics, Centre for Musculoskeletal Research, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, The University of Manchester, Oxford Road, Manchester, M13 9PT, UK.
    Background: Osteoporosis individual susceptibility is determined by the interaction of multiple genetic variants and environmental factors. The aim of this study was to conduct SNP-SNP interaction analyses in candidate genes influencing heel quantitative ultrasound (QUS) parameter in early adulthood to identify novel insights into the mechanism of disease.

    Methods: The study population included 575 healthy subjects (mean age 20. Read More

    Genetic analysis of parathyroid and pancreatic tumors in a patient with multiple endocrine neoplasia type 1 using whole-exome sequencing.
    BMC Med Genet 2017 Oct 2;18(1):106. Epub 2017 Oct 2.
    Division of Intractable Diseases, Center for Biomedical Sciences, Korea National Institute of Health, 187 Osongsaengmyeing2-ro, Cheongju-si, Chungcheongbuk-do, 28159, South Korea.
    Background: Multiple endocrine neoplasia type 1 (MEN1) syndrome is an autosomal dominant hereditary disorder characterized by the presence of endocrine tumors affecting the parathyroid, pancreas, and pituitary. A heterozygous germline inactivating mutation in the MEN1 gene (first hit) may be followed by somatic loss of the remaining normal copy or somatic mutations in the MEN1 gene (second hit). Whole-exome sequencing has been successfully used to elucidate the mutations associated with the different types of tumors. Read More

    Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters.
    BMC Med Genet 2017 Oct 2;18(1):103. Epub 2017 Oct 2.
    deCODE Genetics/Amgen, Inc., Sturlugata 8, 101, Reykjavik, Iceland.
    Background: Epileptic encephalopathies are a group of childhood epilepsies that display high phenotypic and genetic heterogeneity. The recent, extensive use of next-generation sequencing has identified a large number of genes in epileptic encephalopathies, including UBA5 in which biallelic mutations were first described as pathogenic in 2016 (Colin E et al., Am J Hum Genet 99(3):695-703, 2016. Read More

    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

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