Large intragenic deletion of CDC73 (exons 4-10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family.

abstract：BACKGROUND:Autism is a complex, heterogeneous, behaviorally-defined disorder characterized by disruptions of the nervous system and of other systems such as the pituitary-hypothalamic axis. In a previous genome wide screen, we reported linkage of autism with a 1.2 Megabase interval on chromosome 5q31. For the current s...

journal_title：BMC medical genetics

authors： Philippi A,Tores F,Carayol J,Rousseau F,Letexier M,Roschmann E,Lindenbaum P,Benajjou A,Fontaine K,Vazart C,Gesnouin P,Brooks P,Hager J

更新日期：2007-12-06 00:00:00

abstract：BACKGROUND:Cryptic structural abnormalities within the subtelomeric regions of chromosomes have been the focus of much recent research because of their discovery in a percentage of people with mental retardation (UK terminology: learning disability). These studies focused on subjects (largely children) with various sev...

journal_title：BMC medical genetics

authors： Pickard BS,Hollox EJ,Malloy MP,Porteous DJ,Blackwood DH,Armour JA,Muir WJ

更新日期：2004-08-13 00:00:00

abstract：BACKGROUND:Diabetes mellitus (DM) is divided into four different etiological categories: type 1 DM (T1DM), type 2 DM (T2DM), other specific types, and gestational DM. One severe complication of T2DM is type 2 diabetic nephropathy (T2DN). The possible association of serum transforming growth factor-β1 (TGF-β1) levels an...

journal_title：BMC medical genetics

authors： Zhou T,Li HY,Zhong H,Zhong Z

更新日期：2018-11-20 00:00:00

abstract：BACKGROUND:Methylenetetrahydrofolate reductase (MTHFR) has a major impact on the regulation of the folic acid pathway due to conversion of 5,10-methylenetetrahydrofolate (methylene-THF) to 5-methyl-THF. Two common polymorphisms (677C>T and 1298A>C) in the gene coding for MTHFR have been shown to reduce MTHFR enzyme act...

journal_title：BMC medical genetics

authors： Schnakenberg E,Mehles A,Cario G,Rehe K,Seidemann K,Schlegelberger B,Elsner HA,Welte KH,Schrappe M,Stanulla M

更新日期：2005-05-27 00:00:00

abstract：BACKGROUND:We report a large family with four successive generations, presenting with a complex phenotype of severe congenital neutropenia (SCN), partially penetrant monocytosis, and hearing loss of varying severity. METHODS:We performed whole exome sequencing to identify the causative variants. Sanger sequencing was ...

journal_title：BMC medical genetics

authors： Venugopal P,Gagliardi L,Forsyth C,Feng J,Phillips K,Babic M,Poplawski NK,Rienhoff HY Jr,Schreiber AW,Hahn CN,Brown AL,Scott HS

更新日期：2020-02-17 00:00:00

abstract：BACKGROUND:KCNH1 encodes a voltage-gated potassium channel that is predominantly expressed in the central nervous system. Mutations in this gene were recently found to be responsible for Temple-Baraitser Syndrome (TMBTS) and Zimmermann-Laband syndrome (ZLS). METHODS:Here, we report a new case of TMBTS diagnosed in a L...

journal_title：BMC medical genetics

authors： Mégarbané A,Al-Ali R,Choucair N,Lek M,Wang E,Ladjimi M,Rose CM,Hobeika R,Macary Y,Temanni R,Jithesh PV,Chouchane A,Sastry KS,Thomas R,Tomei S,Liu W,Marincola FM,MacArthur D,Chouchane L

更新日期：2016-06-10 00:00:00

abstract：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 ...

journal_title：BMC medical genetics

authors： Rejeb I,Jilani H,Elaribi Y,Hizem S,Hila L,Zillahrdt JL,Chelly J,Benjemaa L

更新日期：2017-11-17 00:00:00

abstract：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 ha...

journal_title：BMC medical genetics

authors： Nguyen-Dumont T,Myszka A,Karpinski P,Sasiadek MM,Akopyan H,Hammet F,Tsimiklis H,Park DJ,Pope BJ,Slezak R,Kitsera N,Siekierzynska A,Southey MC

更新日期：2018-01-19 00:00:00

abstract：BACKGROUND:Genetic variations in the calpain-10 gene (CAPN10), in particular the at-risk diplotype (112/121), were previously implicated with increased risk of type 2 diabetes (T2D). METHODS:We examined the association of CAPN10 UCSNP-43 (rs3792267), UCSNP-19 (rs3842570), and UCSNP-63 (rs5030952) SNPs with T2D in 917 ...

journal_title：BMC medical genetics

authors： Ezzidi I,Turki A,Messaoudi S,Chaieb M,Kacem M,Al-Khateeb GM,Mahjoub T,Almawi WY,Mtiraoui N

更新日期：2010-05-15 00:00:00

abstract：BACKGROUND:Tumor necrosis factor superfamily member 15 (TNFSF15) is closely related to tumorigenesis and development. This study aimed to investigate the correlations between TNFSF15 polymorphisms and genetic susceptibility to lung cancer. METHODS:This case-control study included 209 small cell lung cancer patients (S...

journal_title：BMC medical genetics

authors： Gao H,Niu Z,Zhang Z,Wu H,Xie Y,Yang Z,Li A,Jia Z,Zhang X

更新日期：2019-02-08 00:00:00

abstract：BACKGROUND:The Framingham Heart Study (FHS) recently obtained initial results from the first genome-wide association scan for renal traits. The study of 70,987 single nucleotide polymorphisms (SNPs) in 1,010 FHS participants provides a list of SNPs showing the strongest associations with renal traits which need to be v...

journal_title：BMC medical genetics

authors： Kottgen A,Kao WH,Hwang SJ,Boerwinkle E,Yang Q,Levy D,Benjamin EJ,Larson MG,Astor BC,Coresh J,Fox CS

更新日期：2008-06-03 00:00:00

abstract：BACKGROUND:DNA methylation at specific CpG sites within gene promoter regions is known to regulate transcriptional activity in vitro. In human adipose tissue, basal transcription of the aromatase (CYP19A1) gene is driven primarily by the I.4 promoter however the role of DNA methylation in regulating expression in ex vi...

journal_title：BMC medical genetics

authors： Lewis JR,McNab TJ,Liew LJ,Tan J,Hudson P,Wang JZ,Prince RL

更新日期：2013-08-30 00:00:00

abstract：BACKGROUND:Multiple sclerosis (MS) is a complex trait in which alleles at or near the class II loci HLA-DRB1 and HLA-DQB1 contribute significantly to genetic risk. The MHC class II transactivator (MHC2TA) is the master controller of expression of class II genes, and methylation of the promoter of this gene has been pre...

journal_title：BMC medical genetics

authors： Ramagopalan SV,Dyment DA,Morrison KM,Herrera BM,Deluca GC,Lincoln MR,Orton SM,Handunnetthi L,Chao MJ,Sadovnick AD,Ebers GC

更新日期：2008-07-07 00:00:00

abstract：BACKGROUND:Mutations in the SLC26A4 gene are associated with Pendred syndrome and autosomal recessive non-syndromic deafness (DFNB4). Both disorders have similar audiologic characteristics: bilateral hearing loss, often severe or profound, which may be associated with abnormalities of the inner ear, such as dilatation ...

journal_title：BMC medical genetics

authors： Nonose RW,Lezirovitz K,de Mello Auricchio MTB,Batissoco AC,Yamamoto GL,Mingroni-Netto RC

更新日期：2018-05-08 00:00:00

abstract：BACKGROUND:Mitochondrial function is impaired in Parkinson's disease (PD) and may contribute to the pathogenesis of PD, but the causes of mitochondrial impairment in PD are unknown. Mitochondrial dysfunction is recapitulated in cell lines expressing mitochondrial DNA (mtDNA) from PD patients, implicating mtDNA variants...

journal_title：BMC medical genetics

authors： Simon DK,Pankratz N,Kissell DK,Pauciulo MW,Halter CA,Rudolph A,Pfeiffer RF,Nichols WC,Foroud T,Parkinson Study Group-PROGENI Investigators.

更新日期：2010-04-01 00:00:00

abstract：BACKGROUND:A number of single nucleotide polymorphisms (SNPs) have been associated with broadband ultrasound attenuation (BUA) and speed of sound (SOS) as measured by quantitative ultrasound (QUS) at the calcaneus in the Framingham 100K genome-wide association study (GWAS) but have not been validated in independent stu...

journal_title：BMC medical genetics

authors： Roshandel D,Thomson W,Pye SR,Boonen S,Borghs H,Vanderschueren D,Huhtaniemi IT,Adams JE,Ward KA,Bartfai G,Casanueva F,Finn JD,Forti G,Giwercman A,Han TS,Kula K,Lean ME,Pendleton N,Punab M,Silman AJ,Wu FC,Holliday

更新日期：2011-01-28 00:00:00

abstract：BACKGROUND:Catechol-O-methyltransferase (COMT Val158Met) has been implicated in both depression and cardiovascular disease. The purpose of this study was to assess if COMT Val158Met, which influences the COMT enzyme activity, has an effect on the risk of cardiovascular disease (CVD) in individuals with a history of dep...

journal_title：BMC medical genetics

authors： Almas A,Forsell Y,Millischer V,Möller J,Lavebratt C

更新日期：2018-07-25 00:00:00

abstract：BACKGROUND:Multiple endocrine neoplasia type 1 (MEN1) syndrome is usually accompanied by endocrine tumors, but non-endocrine tumors can occur as well. However, the coexistence of MEN1 syndrome and malignant tumor such as low-grade fibromyxoid sarcoma has not been described in the literature. Moreover, the MEN1 gene mut...

journal_title：BMC medical genetics

authors： Radman M,Milicevic T

更新日期：2020-09-29 00:00:00

abstract：BACKGROUND:Many myopathies share clinical features in common, and diagnosis often requires genetic testing. We ascertained a family in which five siblings presented with distal muscle weakness of unknown etiology. METHODS:We performed high-density genomewide linkage analysis and mutation screening of candidate genes t...

journal_title：BMC medical genetics

authors： Boyden SE,Duncan AR,Estrella EA,Lidov HG,Mahoney LJ,Katz JS,Kunkel LM,Kang PB

更新日期：2011-06-28 00:00:00

abstract：BACKGROUND:Retinitis pigmentosa (RP), a clinically and genetically heterogeneous group of retinal degeneration disorders affecting the photoreceptor cells, is one of the leading causes of genetic blindness. Mutations in the photoreceptor-specific gene RP1 account for 3-10% of cases of autosomal dominant RP (adRP). Most...

journal_title：BMC medical genetics

authors： Gamundi MJ,Hernan I,Martínez-Gimeno M,Maseras M,García-Sandoval B,Ayuso C,Antiñolo G,Baiget M,Carballo M

更新日期：2006-04-05 00:00:00

abstract：BACKGROUND:Analyses of Expressed Sequence Tags (ESTs) databases suggest that most human genes have multiple alternative splice variants. The alternative splicing of pre-mRNA is tightly regulated during development and in different tissue types. Changes in splicing patterns have been described in disease states. Recentl...

journal_title：BMC medical genetics

authors： Dong L,Jensen RV,De Rienzo A,Gordon GJ,Xu Y,Sugarbaker DJ,Bueno R

更新日期：2009-12-31 00:00:00

abstract：BACKGROUND:Distal arthrogryposis (DA) is a group of clinically and genetically heterogeneous disorders that involve multiple congenital limb contractures and comprise at least 10 clinical subtypes. Here, we describe our findings in two Chinese families: Family 1 with DA2B (MIM 601680) and Family 2 with mild DA. METHOD...

journal_title：BMC medical genetics

authors： Li S,You Y,Gao J,Mao B,Cao Y,Zhao X,Zhang X

更新日期：2018-10-03 00:00:00

abstract：BACKGROUND:Osteodysplasia of the oral and maxillofacial bone is generally accompanied by systemic bone abnormalities (such as short stature, joint contracture) or other systemic abnormalities (such as renal, dermatological, cardiovascular, optic, or hearing disorders). However, it does not always present this way. Rece...

journal_title：BMC medical genetics

authors： Aoyama KI,Kimura M,Yamazaki H,Uchibori M,Kojima R,Osawa Y,Hosomichi K,Ota Y,Tanaka M,Yamada S,Nishimura G

更新日期：2019-07-16 00:00:00

abstract：BACKGROUND:Congenital NBCe1A deficiency with the SLC4A4 mutation causes severe proximal renal tubular acidosis, which often comprises extrarenal symptoms, such as intellectual disability and developmental delay, glaucoma, cataract and band keratopathy. To date, almost all mutations have been found to be homozygous muta...

journal_title：BMC medical genetics

authors： Horita S,Simsek E,Simsek T,Yildirim N,Ishiura H,Nakamura M,Satoh N,Suzuki A,Tsukada H,Mizuno T,Seki G,Tsuji S,Nangaku M

更新日期：2018-06-18 00:00:00

abstract：BACKGROUND:Pulmonary capillary hemangiomatosis (PCH) is an uncommon pulmonary disorder, with variable clinical features depending on which lung structure is affected, and it is usually linked to pulmonary arterial hypertension. Congenital PCH has been very rarely described and, so far, the only causative gene identifie...

journal_title：BMC medical genetics

authors： Dello Russo P,Franzoni A,Baldan F,Puppin C,De Maglio G,Pittini C,Cattarossi L,Pizzolitto S,Damante G

更新日期：2015-10-13 00:00:00

abstract：BACKGROUND:Ornithine transcarbamylase deficiency (OTCD) is an X-linked recessive disorder involving a defect in the urea cycle caused by OTC gene mutations. Although a total of 417 disease-causing mutations in OTC have been reported, structural abnormalities in this gene are rare. We here describe a female OTCD case ca...

journal_title：BMC medical genetics

authors： Yokoi K,Nakajima Y,Inagaki H,Tsutsumi M,Ito T,Kurahashi H

更新日期：2018-12-12 00:00:00

abstract：BACKGROUND:Osteopoikilosis is a rare autosomal dominant genetic disorder, characterised by the occurrence of the hyperostotic spots preferentially localized in the epiphyses and metaphyses of the long bones, and in the carpal and tarsal bones 1. Heterozygous LEMD3 gene mutations were shown to be the primary cause of th...

journal_title：BMC medical genetics

authors： Baasanjav S,Jamsheer A,Kolanczyk M,Horn D,Latos T,Hoffmann K,Latos-Bielenska A,Mundlos S

更新日期：2010-07-09 00:00:00

abstract：BACKGROUND:Ankylosing spondylitis (AS) is a debilitating autoimmune disease affecting tens of millions of people in the world. The genetics of AS is unclear. Analysis of rare AS pedigrees might facilitate our understanding of AS pathogenesis. METHODS:We used genome-wide linkage analysis and whole-exome sequencing in c...

journal_title：BMC medical genetics

authors： Tan Z,Zeng H,Xu Z,Tian Q,Gao X,Zhou C,Zheng Y,Wang J,Ling G,Wang B,Yang Y,Ma L

更新日期：2018-07-05 00:00:00

abstract：BACKGROUND:Cohen syndrome (CS) is an uncommon developmental disease with evident clinical heterogeneity. VPS13B is the only gene responsible for CS. Only few sporadic cases of CS have been reported in China. CASE PRESENTATION:A Chinese family with two offspring-patients affected by developmental delay and intellectual...

journal_title：BMC medical genetics

authors： Zhao S,Luo Z,Xiao Z,Li L,Zhao R,Yang Y,Zhong Y

更新日期：2019-11-21 00:00:00

abstract：BACKGROUND:Peutz-Jeghers syndrome (PJS) is a rare multi-organ cancer syndrome and understanding its genetic basis may help comprehend the molecular mechanism of familial cancer. A number of germ line mutations in the STK11 gene, encoding a serine threonine kinase have been reported in these patients. However, STK11 mut...

journal_title：BMC medical genetics

authors： Thakur N,Reddy DN,Rao GV,Mohankrishna P,Singh L,Chandak GR

更新日期：2006-09-30 00:00:00