当前位置： SCI文献检索 > BMC Medical Genetics期刊下所有文献 > Low incidence of limb-girdle muscular dystrophy type 2C revealed by a mutation study in Japanese patients clinically diagnosed with DMD.

Low incidence of limb-girdle muscular dystrophy type 2C revealed by a mutation study in Japanese patients clinically diagnosed with DMD.

Abstract：

BACKGROUND:Limb-girdle muscular dystrophy type 2C (LGMD2C) is an autosomal recessive muscle dystrophy that resembles Duchenne muscular dystrophy (DMD). Although DMD is known to affect one in every 3500 males regardless of race, a widespread founder mutation causing LGMD2C has been described in North Africa. However, the incidence of LGMD2C in Japanese has been unknown because the genetic background remains uncharacterized in many patients clinically diagnosed with DMD. METHODS:We enrolled 324 patients referred to the Kobe University Hospital with suspected DMD. Mutations in the dystrophin or the SGCG genes were analyzed using not only genomic DNA but also cDNA. RESULTS:In 322 of the 324 patients, responsible mutations in the dystrophin were successfully revealed, confirming DMD diagnosis. The remaining two patients had normal dystrophin expression but absence of gamma-sarcoglycan in skeletal muscle. Mutation analysis of the SGCG gene revealed homozygous deletion of exon 6 in one patient, while the other had a novel single nucleotide insertion in exon 7 in one allele and deletion of exon 6 in the other allele. These mutations created a stop codon that led to a gamma-sarcoglycan deficiency, and we therefore diagnosed these two patients as having LGMD2C. Thus, the relative incidence of LGMD2C among Japanese DMD-like patients can be calculated as 1 in 161 patients suspected to have DMD (2 of 324 patients = 0.6%). Taking into consideration the DMD incidence for the overall population (1/3,500 males), the incidence of LGMD2C can be estimated as 1 per 560,000 or 1.8 per million. CONCLUSIONS:To the best of our knowledge, this is the first study to demonstrate a low incidence of LGMD2C in the Japanese population.

journal_name

BMC Med Genet

journal_title

BMC medical genetics

authors

Okizuka Y,Takeshima Y,Itoh K,Zhang Z,Awano H,Maruyama K,Kumagai T,Yagi M,Matsuo M

doi

10.1186/1471-2350-11-49

subject

Has Abstract

pub_date

2010-03-30 00:00:00

pages

49

issn

1471-2350

pii

1471-2350-11-49

journal_volume

11

pub_type

杂志文章

相关文献

BMC Medical Genetics文献大全
  • A novel ultra-sensitive method for the detection of FGFR3 mutations in urine of bladder cancer patients - Design of the Urodiag® PCR kit for surveillance of patients with non-muscle-invasive bladder cancer (NMIBC).

    abstract：BACKGROUND:We have recently developed a highly accurate urine-based test, named Urodiag®, associating FGFR3 mutation and DNA methylation assays for recurrence surveillance in patients with low-, intermediate-, and high-risk NMIBC. Previously, the detection of four FGFR3 mutations (G372C, R248C, S249C and Y375C) require...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/s12881-020-01050-w

    authors： Roperch JP,Hennion C

    更新日期：2020-05-24 00:00:00

  • Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE.

    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

    pub_type： 杂志文章

    doi：10.1186/1471-2350-12-87

    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

  • The impact of CFNS-causing EFNB1 mutations on ephrin-B1 function.

    abstract：BACKGROUND:Mutations of EFNB1 cause the X-linked malformation syndrome craniofrontonasal syndrome (CFNS). CFNS is characterized by an unusual phenotypic pattern of inheritance, because it affects heterozygous females more severely than hemizygous males. This sex-dependent inheritance has been explained by random X-inac...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/1471-2350-11-98

    authors： Makarov R,Steiner B,Gucev Z,Tasic V,Wieacker P,Wieland I

    更新日期：2010-06-17 00:00:00

  • Whole-exome sequencing identified a missense mutation in WFS1 causing low-frequency hearing loss: a case report.

    abstract：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 ...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/s12881-017-0511-7

    authors： Choi HJ,Lee JS,Yu S,Cha DH,Gee HY,Choi JY,Lee JD,Jung J

    更新日期：2017-12-19 00:00:00

  • A mitotic recombination map proximal to the APC locus on chromosome 5q and assessment of influences on colorectal cancer risk.

    abstract：BACKGROUND:Mitotic recombination is important for inactivating tumour suppressor genes by copy-neutral loss of heterozygosity (LOH). Although meiotic recombination maps are plentiful, little is known about mitotic recombination. The APC gene (chr5q21) is mutated in most colorectal tumours and its usual mode of LOH is m...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/1471-2350-10-54

    authors： Howarth K,Ranta S,Winter E,Teixeira A,Schaschl H,Harvey JJ,Rowan A,Jones A,Spain S,Clark S,Guenther T,Stewart A,Silver A,Tomlinson I

    更新日期：2009-06-10 00:00:00

  • HLA haplotypes associated with hemochromatosis mutations in the Spanish population.

    abstract：BACKGROUND:The present study is an analysis of the frequencies of HLA-A and -B antigens and HLA haplotypes in two groups of individuals homozygous for the two main HFE mutations (C282Y and H63D) and a group heterozygous for the S65C mutation. METHODS:The study population includes: 1123 healthy individuals, 100 homozyg...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/1471-2350-5-25

    authors： Pacho A,Mancebo E,del Rey MJ,Castro MJ,Oliver D,García-Berciano M,González L,Morales P

    更新日期：2004-10-21 00:00:00

  • Evaluation of 22 genetic variants with Crohn's disease risk in the Ashkenazi Jewish population: a case-control study.

    abstract：BACKGROUND:Crohn's disease (CD) has the highest prevalence among individuals of Ashkenazi Jewish (AJ) descent compared to non-Jewish Caucasian populations (NJ). We evaluated a set of well-established CD-susceptibility variants to determine if they can explain the increased CD risk in the AJ population. METHODS:We recr...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/1471-2350-12-63

    authors： Peter I,Mitchell AA,Ozelius L,Erazo M,Hu J,Doheny D,Abreu MT,Present DH,Ullman T,Benkov K,Korelitz BI,Mayer L,Desnick RJ,New York Crohn's Disease Working Group.

    更新日期：2011-05-06 00:00:00

  • Case report: adult onset diabetes with partial pancreatic agenesis and congenital heart disease due to a de novo GATA6 mutation.

    abstract：BACKGROUND:Mutations in GATA6 are the most frequent cause of pancreatic agenesis. Most cases present with neonatal diabetes mellitus. CASE PRESENTATION:The case was a female born after an uncomplicated pregnancy and delivery in a non-consanguineous family (3.59 kg, 70th percentile). Severe cardiac malformations were d...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/s12881-020-01012-2

    authors： Sanchez-Lechuga B,Saqlain M,Ng N,Colclough K,Woods C,Byrne M

    更新日期：2020-04-03 00:00:00

  • Genetic polymorphisms located in genes related to immune and inflammatory processes are associated with end-stage renal disease: a preliminary study.

    abstract：BACKGROUND:Chronic kidney disease progression has been linked to pro-inflammatory cytokines and markers of inflammation. These markers are also elevated in end-stage renal disease (ESRD), which constitutes a serious public health problem. OBJECTIVE:To investigate whether single nucleotide polymorphisms (SNPs) located ...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/1471-2350-13-58

    authors： Jimenez-Sousa MA,López E,Fernandez-Rodríguez A,Tamayo E,Fernández-Navarro P,Segura-Roda L,Heredia M,Gómez-Herreras JI,Bustamante J,García-Gómez JM,Bermejo-Martin JF,Resino S

    更新日期：2012-07-20 00:00:00

  • Novel mutations of STXBP2 and LYST associated with adult haemophagocytic lymphohistiocytosis with Epstein-Barr virus infection: a case report.

    abstract：BACKGROUND:Haemophagocytic lymphohistiocytosis is a life-threatening disease resulting from primary or secondary hyper-inflammatory disorders. The typical symptoms include persistent fever, splenomegaly, cytopenia and significant elevation of serum ferritin. CASE PRESENTATION:We report a 30-year-old Chinese female pat...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/s12881-019-0765-3

    authors： Sheng L,Zhang W,Gu J,Shen K,Luo H,Yang Y

    更新日期：2019-02-19 00:00:00

  • Association of autism with polymorphisms in the paired-like homeodomain transcription factor 1 (PITX1) on chromosome 5q31: a candidate gene analysis.

    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

    pub_type： 杂志文章

    doi：10.1186/1471-2350-8-74

    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

  • Search for cardiac calcium cycling gene mutations in familial ventricular arrhythmias resembling catecholaminergic polymorphic ventricular tachycardia.

    abstract：BACKGROUND:Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe inherited cardiac disorder caused by mutations predominantly in the ryanodine receptor (RyR2) gene. We sought to identify mutations in genes affecting cardiac calcium cycling in patients with CPVT and in less typical familial exercise-r...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/1471-2350-10-12

    authors： Marjamaa A,Laitinen-Forsblom P,Lahtinen AM,Viitasalo M,Toivonen L,Kontula K,Swan H

    更新日期：2009-02-12 00:00:00

  • Association of tumor necrosis factor-α gene polymorphisms and coronary artery disease susceptibility: a systematic review and meta-analysis.

    abstract：BACKGROUND:The goal of this study was to review relevant case-control studies to determine the association of tumor necrosis factor-α (TNF-α) gene polymorphisms and coronary artery disease (CAD) susceptibility. METHODS:Using appropriate keywords, we identified relevant studies using PubMed, Cochrane, Embase, CNKI, VAN...

    journal_title：BMC medical genetics

    pub_type： 杂志文章,meta分析

    doi：10.1186/s12881-020-0952-2

    authors： Huang R,Zhao SR,Li Y,Liu F,Gong Y,Xing J,Xu ZS

    更新日期：2020-02-11 00:00:00

  • Differentially expressed alternatively spliced genes in malignant pleural mesothelioma identified using massively parallel transcriptome sequencing.

    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

    pub_type： 杂志文章

    doi：10.1186/1471-2350-10-149

    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

  • Eight previously unidentified mutations found in the OA1 ocular albinism gene.

    abstract：BACKGROUND:Ocular albinism type 1 (OA1) is an X-linked ocular disorder characterized by a severe reduction in visual acuity, nystagmus, hypopigmentation of the retinal pigmented epithelium, foveal hypoplasia, macromelanosomes in pigmented skin and eye cells, and misrouting of the optical tracts. This disease is primari...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/1471-2350-7-41

    authors： Mayeur H,Roche O,Vêtu C,Jaliffa C,Marchant D,Dollfus H,Bonneau D,Munier FL,Schorderet DF,Levin AV,Héon E,Sutherland J,Lacombe D,Said E,Mezer E,Kaplan J,Dufier JL,Marsac C,Menasche M,Abitbol M

    更新日期：2006-04-28 00:00:00

  • CNV analysis in 169 patients with bladder exstrophy-epispadias complex.

    abstract：BACKGROUND:The bladder exstrophy-epispadias complex (BEEC) represents the severe end of the congenital uro-rectal malformation spectrum. Initial studies have implicated rare copy number variations (CNVs), including recurrent duplications of chromosomal region 22q11.21, in BEEC etiology. METHODS:To detect further CNVs,...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/s12881-016-0299-x

    authors： von Lowtzow C,Hofmann A,Zhang R,Marsch F,Ebert AK,Rösch W,Stein R,Boemers TM,Hirsch K,Marcelis C,Feitz WF,Brusco A,Migone N,Di Grazia M,Moebus S,Nöthen MM,Reutter H,Ludwig M,Draaken M

    更新日期：2016-04-30 00:00:00

  • Sequence variants identification at the KCNQ1OT1:TSS differentially Methylated region in isolated omphalocele cases.

    abstract：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 Sit...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/s12881-017-0470-z

    authors： Bedeschi MF,Calvello M,Paganini L,Pezzani L,Baccarin M,Fontana L,Sirchia SM,Guerneri S,Canazza L,Leva E,Colombo L,Lalatta F,Mosca F,Tabano S,Miozzo M

    更新日期：2017-10-18 00:00:00

  • Risk variants in BMP4 promoters for nonsyndromic cleft lip/palate in a Chilean population.

    abstract：BACKGROUND:Bone morphogenetic protein 4 gene (BMP4) plays a key role during maxillofacial development, since orofacial clefts are observed in animals when this gene is conditionally inactivated. We recently reported the existence of association between nonsyndromic cleft lip/palate (NSCLP) and BMP4 polymorphisms by det...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/1471-2350-12-163

    authors： Suazo J,Tapia JC,Santos JL,Castro VG,Colombo A,Blanco R

    更新日期：2011-12-19 00:00:00

  • The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5' X-linked dilated cardiomyopathy.

    abstract：BACKGROUND:In X-linked dilated cardiomyopathy due to dystrophin mutations which abolish the expression of the M isoform (5'-XLDC), the skeletal muscle is spared through the up-regulation of the Brain (B) isoform, a compensatory mechanism that does not appear to occur in the heart of affected individuals. METHODS:We qu...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/1471-2350-13-20

    authors： Neri M,Valli E,Alfano G,Bovolenta M,Spitali P,Rapezzi C,Muntoni F,Banfi S,Perini G,Gualandi F,Ferlini A

    更新日期：2012-03-28 00:00:00

  • Association study of two inflammation-related polymorphisms with susceptibility to hepatocellular carcinoma: a meta-analysis.

    abstract：BACKGROUND:Inflammation is a response of body tissues to injury or irritation. Small RNAs, such as miR-146a and miR-499, participate in various processes of tumorigenesis. A recent study indicates that inflammation and abnormal immune responses may promote malignant progression in cancer development, indicating that in...

    journal_title：BMC medical genetics

    pub_type： 杂志文章,meta分析

    doi：10.1186/s12881-014-0092-7

    authors： Liu J,Xie B,Chen S,Jiang F,Meng W

    更新日期：2014-08-10 00:00:00

  • CT60 genotype does not affect CTLA-4 isoform expression despite association to T1D and AITD in northern Sweden.

    abstract：BACKGROUND:Polymorphisms in and around the CTLA-4 gene have previously been associated to T1D and AITD in several populations. One such single nucleotide polymorphism (SNP), CT60, has been reported to affect the expression level ratio of the soluble (sCTLA-4) to full length CTLA-4 (flCTLA-4) isoforms. The aims of our s...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/1471-2350-8-3

    authors： Mayans S,Lackovic K,Nyholm C,Lindgren P,Ruikka K,Eliasson M,Cilio CM,Holmberg D

    更新日期：2007-02-06 00:00:00

  • Immunological profile in a family with nephrogenic diabetes insipidus with a novel 11 kb deletion in AVPR2 and ARHGAP4 genes.

    abstract：BACKGROUND:Congenital nephrogenic diabetes insipidus (NDI) is characterised by an inability to concentrate urine despite normal or elevated plasma levels of the antidiuretic hormone arginine vasopressin. We report a Japanese extended family with NDI caused by an 11.2-kb deletion that includes the entire AVPR2 locus and...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/1471-2350-9-42

    authors： Fujimoto M,Imai K,Hirata K,Kashiwagi R,Morinishi Y,Kitazawa K,Sasaki S,Arinami T,Nonoyama S,Noguchi E

    更新日期：2008-05-20 00:00:00

  • LRCH1 polymorphisms linked to delayed encephalopathy after acute carbon monoxide poisoning identified by GWAS analysis followed by Sequenom MassARRAY® validation.

    abstract：BACKGROUND:We explored the association of leucine-rich repeats and calponin homology domain containing 1 (LRCH1) gene polymorphisms with genetic susceptibility to delayed encephalopathy after acute carbon monoxide poisoning (DEACMP), which might provide a theoretical basis for the pathogenesis, diagnosis, and prognosis...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/s12881-019-0931-7

    authors： Gu J,Zeng J,Wang X,Gu X,Zhang X,Zhang P,Zhang F,Han Y,Han Y,Zhang H,Li W,Gu R

    更新日期：2019-12-16 00:00:00

  • Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.

    abstract：BACKGROUND:Hearing loss is the most common sensory defect, and it affects over 6% of the population worldwide. Approximately 50-60% of hearing loss patients are attributed to genetic causes. Currently, more than 100 genes have been reported to cause non-syndromic hearing loss. It is possible and efficient to screen all...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/s12881-020-01087-x

    authors： Zhou Y,Tariq M,He S,Abdullah U,Zhang J,Baig SM

    更新日期：2020-07-18 00:00:00

  • Shine & Lal index as a predictor for early detection of β-thalassemia carriers in a limited resource area in Bandung, Indonesia.

    abstract：BACKGROUND:Thalassemia is the most common inherited disease in the world, involving α- or β-globin in red blood cells. Thalassemia cases rank fifth in the list of national catastrophic diseases in Indonesia; however, nationwide screening for thalassemia carriers is not yet mandatory. This study aimed to assess whether ...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/s12881-019-0868-x

    authors： Maskoen AM,Reniarti L,Sahiratmadja E,Sisca J,Effendi SH

    更新日期：2019-08-09 00:00:00

  • A novel NAA10 p.(R83H) variant with impaired acetyltransferase activity identified in two boys with ID and microcephaly.

    abstract：BACKGROUND:N-terminal acetylation is a common protein modification in human cells and is catalysed by N-terminal acetyltransferases (NATs), mostly cotranslationally. The NAA10-NAA15 (NatA) protein complex is the major NAT, responsible for acetylating ~ 40% of human proteins. Recently, NAA10 germline variants were found...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/s12881-019-0803-1

    authors： Ree R,Geithus AS,Tørring PM,Sørensen KP,Damkjær M,DDD study.,Lynch SA,Arnesen T

    更新日期：2019-06-07 00:00:00

  • Family-based associations in measures of psychological distress and quality of life in a cardiac screening clinic for inheritable cardiac diseases: a cross-sectional study.

    abstract：BACKGROUND:Family-based cardiac screening programmes for persons at risk for genetic cardiac diseases are now recommended. However, the psychological wellbeing and health related quality of life (QoL) of such screened patients is poorly understood, especially in younger patients. We sought to examine wellbeing and QoL ...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/1471-2350-14-1

    authors： McGorrian C,McShane C,McQuade C,Keelan T,Neill JO,Galvin J,Malone K,Mahon NG,Codd M

    更新日期：2013-01-08 00:00:00

  • Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review.

    abstract：BACKGROUND:Int22h1/int22h2-mediated Xq28 duplication syndrome is caused by ~0.5 Mb chromosomal duplications mediated by nonallelic homologous recombination between intron 22 homologous region 1 (int22h1) and 2 (int22h2), which, in addition to int22h3, are also responsible for inversions disrupting the F8 gene in hemoph...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/s12881-015-0157-2

    authors： El-Hattab AW,Schaaf CP,Fang P,Roeder E,Kimonis VE,Church JA,Patel A,Cheung SW

    更新日期：2015-03-14 00:00:00

  • Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations.

    abstract：BACKGROUND:Kabuki syndrome is a rare hereditary disease affecting multiple organs. The causative genes identified to date are KMT2D and KDMA6. The aim of this study is to evaluate the clinical manifestations and the spectrum of mutations of KMT2D. METHODS:We retrospectively retrieved a series of eight patients from tw...

    journal_title：BMC medical genetics

    pub_type： 杂志文章,评审

    doi：10.1186/s12881-015-0171-4

    authors： Liu S,Hong X,Shen C,Shi Q,Wang J,Xiong F,Qiu Z

    更新日期：2015-04-21 00:00:00

  • Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing-impaired subjects.

    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

    pub_type： 杂志文章

    doi：10.1186/s12881-018-0585-x

    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