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BMC Medical Genetics

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https://www.readbyqxmd.com/read/28340560/a-novel-pore-region-mutation-c-887g%C3%A2-%C3%A2-a-p-g296d-in-kcnq4-causing-hearing-loss-in-a-chinese-family-with-autosomal-dominant-non-syndromic-deafness-2
#1
Bangqing Huang, Yanping Liu, Xue Gao, Jincao Xu, Pu Dai, Qingwen Zhu, Yongyi Yuan
BACKGROUND: Hereditary non-syndromic hearing loss is the most common inherited sensory defect in humans. The KCNQ4 channel belongs to a family of potassium ion channels that play crucial roles in physiology and disease. Mutations in KCNQ4 underlie deafness non-syndromic autosomal dominant 2, a subtype of autosomal dominant, progressive, high-frequency hearing loss. METHODS: A six-generation Chinese family from Hebei Province with autosomal dominantly inherited, sensorineural, postlingual, progressive hearing loss was enrolled in this study...
March 24, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28335750/novel-compound-heterozygous-mutations-in-the-otof-gene-identified-by-whole-exome-sequencing-in-auditory-neuropathy-spectrum-disorder
#2
Fengzhu Tang, Dengke Ma, Yulan Wang, Yuecai Qiu, Fei Liu, Qingqing Wang, Qiutian Lu, Min Shi, Liang Xu, Min Liu, Jianping Liang
BACKGROUND: Many hearing-loss diseases are demonstrated to have Mendelian inheritance caused by mutations in single gene. However, many deaf individuals have diseases that remain genetically unexplained. Auditory neuropathy is a sensorineural deafness in which sounds are able to be transferred into the inner ear normally but the transmission of the signals from inner ear to auditory nerve and brain is injured, also known as auditory neuropathy spectrum disorder (ANSD). The pathogenic mutations of the genes responsible for the Chinese ANSD population remain poorly understood...
March 23, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28327142/exome-sequencing-identified-rare-variants-in-genes-hspg2-and-atp2b4-in-a-family-segregating-developmental-dysplasia-of-the-hip
#3
Sulman Basit, Alia M Albalawi, Essa Alharby, Khalid I Khoshhal
BACKGROUND: Developmental dysplasia of the hip (DDH) is a common pathological condition of the musculoskeletal system in infants which results in a congenital and developmental malformation of the hip joint. DDH is a spectrum of pathologies affecting the infant hip ranging from asymptomatic subtle radiographic signs through mild instability to frank dislocations with acetabular dysplasia. A Saudi family with three affected individuals with DDH was identified and genetic analysis was performed to detect the possible genetic defect(s) underlying DDH in the affected members of the family...
March 21, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28327087/nt5c2-novel-splicing-variant-expands-the-phenotypic-spectrum-of-spastic-paraplegia-spg45-case-report-of-a-new-member-of-thin-corpus-callosum-spg-subgroup
#4
Mahmoud F Elsaid, Khalid Ibrahim, Nader Chalhoub, Ahmed Elsotouhy, Noora El Mudehki, Alice Abdel Aleem
BACKGROUND: Hereditary Spastic Paraplegia (HSP) is a genetically heterogeneous group of neurodegenerative diseases. Thin Corpus Callosum (TCC) associated HSP is a distinguished subgroup of complex forms. Purines and pyrimidine, the basic DNA and RNA components, are regulating the cell metabolism, having roles in signal transduction, energy preservation and cellular repair. Genetic defects in nucleotide metabolism related genes have been only recently implicated in brain and neurodegenerative diseases' pathogenesis...
March 21, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28320335/mitochondrial-mutations-in-maternally-inherited-hearing-loss
#5
Hideki Mutai, Takahisa Watabe, Kenjiro Kosaki, Kaoru Ogawa, Tatsuo Matsunaga
BACKGROUND: Although the mitochondrial DNA (mtDNA) mutations m.1555A > G and m.3243A > G are the primary causes of maternally inherited sensorineural hearing loss (SNHL), several other mtDNA mutations are also reported to be associated with SNHL. METHODS: Screening of m.1555A > G and m.3243A > G mutations was performed for 145 probands. Nine probands fulfilled the following criteria: 1) bilateral and symmetric SNHL, 2) ≥ 4 family members with SNHL with a maternal trait of inheritance in ≥ 2 generations, 3) onset of SNHL before the age of 40 years, 4) high-frequency SNHL, and 5) no record of environmental factors related to SNHL...
March 20, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28315637/trpm4-non-selective-cation-channel-variants-in-long-qt-syndrome
#6
Thomas Hof, Hui Liu, Laurent Sallé, Jean-Jacques Schott, Corinne Ducreux, Gilles Millat, Philippe Chevalier, Vincent Probst, Romain Guinamard, Patrice Bouvagnet
BACKGROUND: Long QT syndrome (LQTS) is an inherited arrhythmic disorder characterized by prolongation of the QT interval, a risk of syncope, and sudden death. There are already a number of causal genes in LQTS, but not all LQTS patients have an identified mutation, which suggests LQTS unknown genes. METHODS: A cohort of 178 LQTS patients, with no mutations in the 3 major LQTS genes (KCNQ1, KCNH2, and SCN5A), was screened for mutations in the transient potential melastatin 4 gene (TRPM4)...
March 18, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28302064/a-sibship-with-duplication-of-xq28-inherited-from-the-mother-genomic-characterization-and-clinical-outcomes
#7
Dong Keon Yon, Ji Eun Park, Seung Jun Kim, Sung Han Shim, Kyu Young Chae
BACKGROUND: Loss-of-function mutations in methyl-CpG-binding protein 2 (MECP2; MIM *300005) results in the Rett syndrome, whereas gain-of-function mutations are associated with the MECP2 duplication syndrome. METHODS: We did research on a family with two brothers showing Xq28 duplication syndrome using various molecular cytogenetic techniques such as multiplex ligation-dependent probe amplification and array-based genomic hybridization. RESULTS: The duplicated region had several genes including MECP2 and interleukin-1 receptor associated kinase 1 (IRAK1; MIM *300283)...
March 17, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28302057/clinically-proven-mtdna-mutations-are-not-common-in-those-with-chronic-fatigue-syndrome
#8
Elizna M Schoeman, Francois H Van Der Westhuizen, Elardus Erasmus, Etresia van Dyk, Charlotte V Y Knowles, Shereen Al-Ali, Wan-Fai Ng, Robert W Taylor, Julia L Newton, Joanna L Elson
BACKGROUND: Chronic Fatigue Syndrome (CFS) is a prevalent debilitating condition that affects approximately 250,000 people in the UK. There is growing interest in the role of mitochondrial function and mitochondrial DNA (mtDNA) variation in CFS. It is now known that fatigue is common and often severe in patients with mitochondrial disease irrespective of their age, gender or mtDNA genotype. More recently, it has been suggested that some CFS patients harbour clinically proven mtDNA mutations...
March 16, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28298181/early-onset-of-adck4-glomerulopathy-with-renal-failure-a-case-report
#9
Ksenija Lolin, Benedetta D Chiodini, Elise Hennaut, Brigitte Adams, Karin Dahan, Khalid Ismaili
BACKGROUND: We present a rare early presentation of a ADCK4-related glomerulopathy. This case is of interest as potentially treatable if genetic results are timely obtained. CASE PRESENTATION: We report the case of a 5-year-old boy who was identified with significant proteinuria by a urinary routine screening program for school children. Physical examination revealed dysplastic ears and abnormal folded pinna. Albumin level was 41 g/L (39-53 g/L), and urine proteins/creatinine ratio was 2...
March 16, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28298193/identification-of-two-novel-mutations-in-the-slc45a2-gene-in-a-hungarian-pedigree-affected-by-unusual-oca-type-4
#10
Lola Tóth, Beáta Fábos, Katalin Farkas, Adrienn Sulák, Kornélia Tripolszki, Márta Széll, Nikoletta Nagy
BACKGROUND: Oculocutaneous albinism (OCA) is a clinically and genetically heterogenic group of pigmentation abnormalities. OCA type IV (OCA4, OMIM 606574) develops due to homozygous or compound heterozygous mutations in the solute carrier family 45, member 2 (SLC45A2) gene. This gene encodes a membrane-associated transport protein, which regulates tyrosinase activity and, thus, melanin content by changing melanosomal pH and disrupting the incorporation of copper into tyrosinase. METHODS: Here we report two Hungarian siblings affected by an unusual OCA4 phenotype...
March 15, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28292286/exome-sequencing-identifies-a-novel-ttc37-mutation-in-the-first-reported-case-of-trichohepatoenteric-syndrome-the-s-in-south-africa
#11
Craig Kinnear, Brigitte Glanzmann, Eric Banda, Nikola Schlechter, Glenda Durrheim, Annika Neethling, Etienne Nel, Mardelle Schoeman, Glynis Johnson, Paul D van Helden, Eileen G Hoal, Monika Esser, Michael Urban, Marlo Möller
BACKGROUND: Trichohepatoenteric syndrome (THE-S) or phenotypic diarrhoea of infancy is a rare autosomal recessive disorder characterised by severe infantile diarrhoea, facial dysmorphism, immunodeficiency and woolly hair. It was first described in 1982 in two infants with intractable diarrhoea, liver cirrhosis and abnormal hair structure on microscopy. We report on two siblings from a consanguineous family of Somali descent who, despite extensive clinical investigation, remained undiagnosed until their demise...
March 14, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28257626/two-novel-compound-heterozygous-bmp1-mutations-in-a-patient-with-osteogenesis-imperfecta-a-case-report
#12
Apiruk Sangsin, Chulaluck Kuptanon, Chalurmpon Srichomthong, Monnat Pongpanich, Kanya Suphapeetiporn, Vorasuk Shotelersuk
BACKGROUND: Osteogenesis imperfecta (OI) is a collagen-related bone dysplasia leading to a susceptibility to fractures. OI can be caused by mutations in several genes including BMP1. It encodes two isoforms, bone morphogenetic protein 1 (BMP1) and mammalian tolloid (mTLD); both have proteolytic activity to remove the C-propeptide from procollagen. CASE PRESENTATION: We report a Thai OI patient who had his first fracture at the age of three months. Using next generation sequencing, we successfully identified two novel compound heterozygous BMP1 mutations...
March 4, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28253841/identification-of-established-arrhythmogenic-right-ventricular-cardiomyopathy-mutation-in-a-patient-with-the-contrasting-phenotype-of-hypertrophic-cardiomyopathy
#13
Matthew Neil Bainbridge, Lili Li, Yanli Tan, Benjamin Y Cheong, Ali J Marian
BACKGROUND: Advances in the nucleic acid sequencing technologies have ushered in the era of genetic-based "precision medicine". Applications of the genetic discoveries to practice of medicine, however, are hindered by phenotypic variability of the genetic variants. The report illustrates extreme pleiotropic phenotypes associated with an established causal mutation for hereditary cardiomyopathy. CASE PRESENTATION: We report a 61-year old white female who presented with syncope and echocardiographic and cardiac magnetic resonance (CMR) imaging findings consistent with the diagnosis of hypertrophic cardiomyopathy (HCM)...
March 3, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28249600/identification-of-somatic-mutations-using-whole-exome-sequencing-in-korean-patients-with-acute-myeloid-leukemia
#14
Seong Gu Heo, Youngil Koh, Jong Kwang Kim, Jongsun Jung, Hyung-Lae Kim, Sung-Soo Yoon, Ji Wan Park
BACKGROUND: Acute myeloid leukemia (AML) is a biologically and clinically heterogeneous cancer of the bone marrow that is characterized by the rapid growth of abnormal myeloid cells. METHODS: We performed a mutational analysis to identify AML somatic mutations using the whole-exome sequencing data of 36 tumor-normal sample pairs from Korean patients with de novo AML. We explored the functional impact of the genes identified in the mutational analyses through an integrated Gene Ontology (GO) and pathway analysis...
March 1, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28245802/characterization-of-two-novel-intronic-opa1-mutations-resulting-in-aberrant-pre-mrna-splicing
#15
Ramona Bolognini, Christina Gerth-Kahlert, Mathias Abegg, Deborah Bartholdi, Nicolas Mathis, Veit Sturm, Sabina Gallati, André Schaller
BACKGROUND: We report two novel splice region mutations in OPA1 in two unrelated families presenting with autosomal-dominant optic atrophy type 1 (ADOA1) (ADOA or Kjer type optic atrophy). Mutations in OPA1 encoding a mitochondrial inner membrane protein are a major cause of ADOA. METHODS: We analyzed two unrelated families including four affected individuals clinically suspicious of ADOA. Standard ocular examinations were performed in affected individuals of both families...
February 28, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28241754/dna-methylation-profiles-of-elderly-individuals-subjected-to-indentured-childhood-labor-and-trauma
#16
Zoya Marinova, Andreas Maercker, Andreas Küffer, Mark D Robinson, Tomasz K Wojdacz, Susanne Walitza, Edna Grünblatt, Andrea Burri
BACKGROUND: Childhood trauma is associated with increased vulnerability to mental and somatic disorders later in life. Epigenetic modifications such as DNA methylation are one potential mechanism through which such long-lasting impairments/consequences can be explained. The aim of the present study was to investigate whether childhood trauma is associated with long-term DNA methylation alterations in old age. METHODS: We assessed genome-wide DNA methylation profiles in a cohort of former indentured child laborers ("Verdingkinder") who suffered severe childhood adversities (N = 30; M age = 75...
February 27, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28231849/a-novel-mutation-in-the-stk11-gene-causes-heritable-peutz-jeghers-syndrome-a-case-report
#17
Jing-Hui Chen, Jing-Jing Zheng, Qin Guo, Chao Liu, Bin Luo, Shuang-Bo Tang, Jian-Ding Cheng, Er-Wen Huang
BACKGROUND: Peutz-Jeghers syndrome (PJS) is a rare disorder characterized by multiple gastrointestinal hamartomatous polyps and mucocutaneous pigmentation. STK11 has been identified as a causative gene for this disease. CASE PRESENTATION: Herein we report a Chinese Han kindred with PJS. Onset for the PJS signs in three of the patients was rarely as early as at birth. We identified a novel heterozygous mutation (c.440_441delGT, p.Arg147Leufs*15) in the gene STK11, causing a short frameshift followed by a deletion of 63% of the amino acids in the STK protein...
February 23, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28231770/mutation-affecting-the-proximal-promoter-of-endoglin-as-the-origin-of-hereditary-hemorrhagic-telangiectasia-type-1
#18
Virginia Albiñana, Ma Paz Zafra, Jorge Colau, Roberto Zarrabeitia, Lucia Recio-Poveda, Leticia Olavarrieta, Julián Pérez-Pérez, Luisa M Botella
BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) is a vascular multi-organ system disorder. Its diagnostic criteria include epistaxis, telangiectases in mucocutaneous sites, arteriovenous malformations (AVMs), and familial inheritance. HHT is transmitted as an autosomal dominant condition, caused in 85% of cases by mutations in either Endoglin (ENG) or Activin receptor-like kinase (ACVRL1/ACVRL1/ALK1) genes. Pathogenic mutations have been described in exons, splice junctions and, in a few cases with ENG mutations, in the proximal promoter, which creates a new ATG start site...
February 23, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28228119/genetic-variation-of-the-toll-like-receptors-in-a-swedish-allergic-rhinitis-case-population
#19
V Henmyr, D Carlberg, E Manderstedt, C Lind-Halldén, T Säll, L O Cardell, C Halldén
BACKGROUND: Variation in the 10 toll-like receptor (TLR) genes has been significantly associated with allergic rhinitis (AR) in several candidate gene studies and three large genome-wide association studies. These have all investigated common variants, but no investigations for rare variants (MAF ≤ 1%) have been made in AR. The present study aims to describe the genetic variation of the promoter and coding sequences of the 10 TLR genes in 288 AR patients. METHODS: Sanger sequencing and Ion Torrent next-generation sequencing was used to identify polymorphisms in a Swedish AR population and these were subsequently compared and evaluated using 1000Genomes and Exome Aggregation Consortium (ExAC) data...
February 23, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28212612/african-ancestry-is-associated-with-facial-melasma-in-women-a-cross-sectional-study
#20
Maria Paula Barbieri D'Elia, Marcela Calixto Brandão, Bruna Ribeiro de Andrade Ramos, Márcia Guimarães da Silva, Luciane Donida Bartoli Miot, Sidney Emanuel Batista Dos Santos, Hélio Amante Miot
BACKGROUND: Melasma is a chronic acquired focal hypermelanosis affecting photoexposed areas, especially for women during fertile age. Several factors contribute to its development: sun exposure, sex steroids, medicines, and family history. Melanic pigmentation pathway discloses several SNPs in different populations. Here, we evaluated the association between genetic ancestry and facial melasma. METHODS: A cross-sectional study involving women with melasma and an age-matched control group from outpatients at FMB-Unesp, Botucatu-SP, Brazil was performed...
February 17, 2017: BMC Medical Genetics
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