当前位置： SCI文献检索 > JOURNAL OF HUMAN GENETICS期刊下所有文献 > GNE myopathy in Chinese population: hotspot and novel mutations.

GNE myopathy in Chinese population: hotspot and novel mutations.

Abstract：

:GNE myopathy is a rare autosomal recessive distal myopathy caused by mutations in UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE), the bi-functional enzyme critical for sialic acid biosynthesis. In this study, we summarized the clinical features, pathological characteristics, and genetic profiles of 46 GNE patients. The clinical and mutational profile of 54 previously reported Chinese patients were also reviewed. A total of 21 novel mutations, including a gross deletion spanning exon 1-2 and a retrotransposon insertion were found in our cohort, enlarging the spectrum of GNE mutations. The most frequent mutation in Chinese population was D207V, which accounts for 25.5% of total alleles (51/200). The age of onset was much later in the patients carrying D207V compared to other patients, indicated the less deleterious effect of D207V on enzyme activity. GNE myopathy may be overlooked in China with a relatively milder phenotype due to the common mutation D207V.

journal_name

J Hum Genet

journal_title

Journal of human genetics

authors

Chen Y,Xi J,Zhu W,Lin J,Luo S,Yue D,Cai S,Sun C,Zhao C,Mitsuhashi S,Nishino I,Xu M,Lu J

doi

10.1038/s10038-018-0525-9

subject

Has Abstract

pub_date

2019-01-01 00:00:00

pages

11-16

issue

1

eissn

1434-5161

issn

1435-232X

pii

10.1038/s10038-018-0525-9

journal_volume

64

pub_type

杂志文章

相关文献

JOURNAL OF HUMAN GENETICS文献大全
  • Genomic structure of the gene encoding human 3-hydroxy-3-methyl-glutaryl coenzyme A reductase: comparison of exon/intron organization of sterol-sensing domains among four related genes.

    abstract：:We determined the genomic structure of the human gene encoding 3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) reductase, which catalyzes the conversion of HMG-CoA to mevalonate and is the rate-limiting and major regulatory enzyme in sterol biosynthesis. The gene is more than 21 kb long, about five times the size of i...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380070017

    authors： Nakajima T,Iwaki K,Hamakubo T,Kodama T,Emi M

    更新日期：2000-01-01 00:00:00

  • High prevalence of an anti-hypertriglyceridemic variant of the MLXIPL gene in Central Asia.

    abstract：:MLXIPL is a transcription factor integral to the regulation of glycolysis and lipogenesis in the liver. Common variants of the MLXIPL gene (MLXIPL) are known to influence plasma triglyceride levels in people of European descent. As MLXIPL has a key role in energy storage, genetic variations of the MLXIPL may be releva...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2011.109

    authors： Nakayama K,Yanagisawa Y,Ogawa A,Ishizuka Y,Munkhtulga L,Charupoonphol P,Supannnatas S,Kuartei S,Chimedregzen U,Koda Y,Ishida T,Kagawa Y,Iwamoto S

    更新日期：2011-12-01 00:00:00

  • In vivo genome editing via the HITI method as a tool for gene therapy.

    abstract：:Using genome-editing technologies to correct specific mutations represents a potentially transformative new approach for treating genetic disorders. Despite rapid advances in the field of genome editing, it is still unclear whether the long-standing goal of in vivo targeted transgene integration is feasible. This is p...

    journal_title：Journal of human genetics

    pub_type： 杂志文章,评审

    doi：10.1038/s10038-017-0352-4

    authors： Suzuki K,Izpisua Belmonte JC

    更新日期：2018-02-01 00:00:00

  • A novel mutation in the SMPX gene associated with X-linked nonsyndromic sensorineural hearing loss in a Chinese family.

    abstract：:X-linked inheritance is very rare and is estimated to account for only 1-5% of all nonsyndromic hearing loss cases. We found a multiplex family from China segregating with X-linked nonsyndromic hearing loss. After exclusive analysis of 10 common variations of three hearing loss-related genes, GJB2, mtDNA12srRNA and SL...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/s10038-018-0443-x

    authors： Deng Y,Niu Z,Fan L,Ling J,Chen H,Cai X,Mei L,He C,Zhang X,Wen J,Li M,Li W,Li T,Sang S,Liu Y,Feng Y

    更新日期：2018-06-01 00:00:00

  • The pharmacogenomics of valproic acid.

    abstract：:Valproic acid is an anticonvulsant and mood-stabilizing drug used primarily in the treatment of epilepsy and bipolar disorder. Adverse effects of valproic acid are rare, but hepatotoxicity is severe in particular in those younger than 2 years old and polytherapy. During valproic acid treatment, it is difficult for pre...

    journal_title：Journal of human genetics

    pub_type： 杂志文章,评审

    doi：10.1038/jhg.2017.91

    authors： Zhu MM,Li HL,Shi LH,Chen XP,Luo J,Zhang ZL

    更新日期：2017-12-01 00:00:00

  • Polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: rs17884724:A>C is associated with 7-alanine expansion.

    abstract：:With congenital central hypoventilation syndrome (CCHS), most patients have a de novo 5-13 polyalanine expansion mutation in PHOX2B. We reported previously that de novo polyalanine expansion mutations were of paternal origin and were derived from unequal sister chromatid exchange during spermatogenesis in six and four...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2009.109

    authors： Arai H,Otagiri T,Sasaki A,Umetsu K,Hayasaka K

    更新日期：2010-01-01 00:00:00

  • An integrated genomic analysis of gene-function correlation on schizophrenia susceptibility genes.

    abstract：:Schizophrenia is a highly complex inheritable disease characterized by numerous genetic susceptibility elements, each contributing a modest increase in risk for the disease. Although numerous linkage or association studies have identified a large set of schizophrenia-associated loci, many are controversial. In additio...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2010.24

    authors： Chu TT,Liu Y

    更新日期：2010-05-01 00:00:00

  • alpha-1-Antichymotrypsin gene A1252G variant (ACT Isehara-1) is associated with a lacunar type of ischemic cerebrovascular disease.

    abstract：:alpha-1-Antichymotrypsin (ACT) is a plasma protease inhibitor belonging to the serpine superfamily; it has many functions. and thus qualitative change in ACT is likely to result in specific diseases. We previously reported a variant AACT (ACT Isehara-1, Met389Val, A1252G) in patients with ischemic cerebrovascular dise...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380170125

    authors： Tachikawa H,Tsuda M,Onoe K,Ueno M,Takagi S,Shinohara Y

    更新日期：2001-01-01 00:00:00

  • High-density single-nucleotide polymorphism (SNP) map in the 96-kb region containing the entire human DiGeorge syndrome critical region 2 (DGCR2) gene at 22q11.2.

    abstract：:We constructed a high-density single-nucleotide polymorphism (SNP) map in the 96-kb region containing the DiGeorge syndrome critical region 2 (DGCR2) gene at chromosome 22q11.2, a human counterpart of mouse seizure-related gene SEZ-12. A total of 102 SNPs were isolated from the region by systematic screening among 48 ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380170029

    authors： Iida A,Ohnishi Y,Ozaki K,Ariji Y,Nakamura Y,Tanaka T

    更新日期：2001-01-01 00:00:00

  • Structural analysis of the chimeric CYP21P/CYP21 gene in steroid 21-hydroxylase deficiency.

    abstract：:Congenital adrenal hyperplasia (CAH) is a common autosomal recessive disorder mainly caused by defects in the steroid 21-hydroxylase (CYP21) gene. More than 90% of CAH cases are caused by mutations of the CYP21 gene. Approximately 75% of the defective CYP21 genes are generated through intergenic recombination, termed ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380200077

    authors： Lee HH,Niu DM,Lin RW,Chan P,Lin CY

    更新日期：2002-01-01 00:00:00

  • Recurrence risks for different pregnancy outcomes and meiotic segregation analysis of spermatozoa in carriers of t(1;11)(p36.22;q12.2).

    abstract：:Cumulative data obtained from two relatively large pedigrees of a unique reciprocal chromosomal translocation (RCT) t(1;11)(p36.22;q12.2) ascertained by three miscarriages (pedigree 1) and the birth of newborn with hydrocephalus and myelomeningocele (pedigree 2) were used to estimate recurrence risks for different pre...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2014.92

    authors： Midro AT,Panasiuk B,Stasiewicz-Jarocka B,Olszewska M,Wiland E,Myśliwiec M,Kurpisz M,Shaffer LG,Gajecka M

    更新日期：2014-12-01 00:00:00

  • A unique demographic history exists for the MAO-A gene in Polynesians.

    abstract：:Variation in the human monoamine oxidase A (MAO-A) gene can influence neurotransmittor levels and is thought to have a role in many behavioral traits. The genetic architecture of MAO-A is known to vary across different geographic subgroups. Previous studies have reported evidence for positive selection within the MAO-...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2012.19

    authors： Eccles DA,Macartney-Coxson D,Chambers GK,Lea RA

    更新日期：2012-05-01 00:00:00

  • The mutation spectrum of the phenylalanine hydroxylase (PAH) gene and associated haplotypes reveal ethnic heterogeneity in the Taiwanese population.

    abstract：:Phenylalanine hydroxylase (PAH) deficiency is responsible for most cases of phenylketonuria (PKU). In this study of the PAH mutation spectrum in the Taiwanese population, 139 alleles were identified including 34 different mutations. The V190G, Q267R and F392I mutations are first reported in this study. The most common...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2013.136

    authors： Liang Y,Huang MZ,Cheng CY,Chao HK,Fwu VT,Chiang SH,Hsiao KJ,Niu DM,Su TS

    更新日期：2014-03-01 00:00:00

  • Dent's disease and prevalence of renal stones in dialysis patients in Northeastern Italy.

    abstract：:Dent's disease (DD) involves nephrocalcinosis, urolithiasis, hypercalciuria, LMW proteinuria, and renal failure in various combinations. Males are affected. It is caused by mutations in the chloride channel CLCN5 gene. It has been suggested that DD is underdiagnosed, occurring in less overt forms, apparently without f...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-005-0317-x

    authors： Tosetto E,Graziotto R,Artifoni L,Nachtigal J,Cascone C,Conz P,Piva M,Dell'Aquila R,De Paoli Vitali E,Citron L,Nalesso F,Antonello A,Vertolli U,Zagatti R,Lupo A,D'Angelo A,Anglani F,Gambaro G

    更新日期：2006-01-01 00:00:00

  • BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families.

    abstract：:BBS8 is one of the eight genes identified to date for Bardet-Biedl syndrome (BBS)-an autosomal recessive condition associated with retinitis pigmentosa, obesity, polydactyly, cognitive impairment and kidney failure. The identification of BBS8 gave the key to the pathogenesis of the condition as a primary ciliary disor...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-005-0320-2

    authors： Stoetzel C,Laurier V,Faivre L,Mégarbané A,Perrin-Schmitt F,Verloes A,Bonneau D,Mandel JL,Cossee M,Dollfus H

    更新日期：2006-01-01 00:00:00

  • Association of IREB2 and CHRNA3/5 polymorphisms with COPD and COPD-related phenotypes in a Chinese Han population.

    abstract：:Genome-wide association studies and integrative genomics approaches have demonstrated significant associations between chronic obstructive pulmonary disease (COPD) and single-nucleotide polymorphisms (SNPs) in the chromosome 15q25 region that includes iron-responsive element binding protein 2 gene (IREB2) and CHRNA3/5...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2012.104

    authors： Zhou H,Yang J,Li D,Xiao J,Wang B,Wang L,Ma C,Xu S,Ou X,Feng Y

    更新日期：2012-11-26 00:00:00

  • Screening of genetic variations of SLC15A2, SLC22A1, SLC22A2 and SLC22A6 genes.

    abstract：:A growing list of membrane-spanning proteins involved in the transport of a large variety of drugs has been recognized and characterized to include peptide and organic anion/cation transporters. Given such an important role of transporter genes in drug disposition process, the role of single-nucleotide polymorphisms (...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2011.77

    authors： Cheong HS,Kim HD,Na HS,Kim JO,Kim LH,Kim SH,Bae JS,Chung MW,Shin HD

    更新日期：2011-09-01 00:00:00

  • Localization of human midisatellite and macrosatellite DNA sequences on chromosomes 1 and X in the great apes.

    abstract：:The mechanism of speciation has remained largely unresolved, and hominoid evolutionary history based on chromosome rearrangements has been continuously challenged. The recent availability of the human-derived chromosome 1-specific midisatellite (D1Z2) and chromosome X-specific macrosatellite (DXZ4) DNA sequence probes...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380050108

    authors： Samonte RV,Conte RA,Verma RS

    更新日期：1999-01-01 00:00:00

  • Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease: nonsense mutation probably causes a recessive phenotype.

    abstract：:The neurofilament light chain polypeptide (NEFL) forms the major intermediate filament in neurons and axons. NEFL mutation is a cause of axonal or demyelinating forms of dominant Charcot-Marie-Tooth disease (CMT). We investigated NEFL in 223 Japanese CMT patients who were negative for PMP22, MPZ, GJB1, LITAF, EGR2, GD...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2008.13

    authors： Abe A,Numakura C,Saito K,Koide H,Oka N,Honma A,Kishikawa Y,Hayasaka K

    更新日期：2009-02-01 00:00:00

  • Two deletion mutations in the hydroxymethylbilane synthase gene in two unrelated Japanese patients with acute intermittent porphyria.

    abstract：:Acute intermittent porphyria (AIP) is an autosomal dominant inherited disease caused by a decreased activity of hydroxymethylbilane synthase (HMBS). Regarding the abnormalities of the HMBS gene, many different mutations have been reported worldwide; however, few families from Japan have been studied. In this work, we ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380070038

    authors： Maeda N,Horie Y,Adachi K,Nanba E,Kawasaki H,Daimon M,Kudo Y,Kondo M

    更新日期：2000-01-01 00:00:00

  • Linkage analysis of two families with X-linked recessive congenital motor nystagmus.

    abstract：:X-linked recessive congenital motor nystagmus was identified in two Chinese families living in the Guangdong province of China. Nystagmus was noticed in early childhood. Only males in the families were affected and all obligate carriers did not have nystagmus. Linkage study was performed using microsatellite markers a...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-005-0316-y

    authors： Guo X,Li S,Jia X,Xiao X,Wang P,Zhang Q

    更新日期：2006-01-01 00:00:00

  • Mutational analysis of GABRG2 in a Japanese cohort with childhood epilepsies.

    abstract：:A few mutations in the gene encoding the gamma 2 subunit of the gamma-aminobutyric acid receptor type A (GABRG2) have been reported in various types of epilepsy. The aim of this study is to investigate the role of GABRG2 in the pathogenesis of childhood epilepsy in a large Japanese cohort. Genetic analysis of GABRG2 w...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2010.47

    authors： Shi X,Huang MC,Ishii A,Yoshida S,Okada M,Morita K,Nagafuji H,Yasumoto S,Kaneko S,Kojima T,Hirose S

    更新日期：2010-06-01 00:00:00

  • EED-associated overgrowth in a second male patient.

    abstract：:Following our discovery that constitutional mutations in EED can cause overgrowth, we screened our cohort of patients with Weaver-like features for mutations in this gene. Here we describe a second patient with a different, rare and de novo mutation in EED. Phenotypic overlap with our first case of EED-associated over...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2016.51

    authors： Cohen AS,Gibson WT

    更新日期：2016-09-01 00:00:00

  • Variations in the WNK1 gene modulates the effect of dietary intake of sodium and potassium on blood pressure determination.

    abstract：:WNK lysine-deficient protein kinase 1 (WNK1) is a member of the WNK family of serine/threonine kinases with no lysine (K), and these kinases have been implicated as important modulators of salt homeostasis in the kidney. It is well known that high dietary sodium and low dietary potassium have been implicated in the et...

    journal_title：Journal of human genetics

    pub_type： 杂志文章,随机对照试验

    doi：10.1038/jhg.2009.64

    authors： Osada Y,Miyauchi R,Goda T,Kasezawa N,Horiike H,Iida M,Sasaki S,Yamakawa-Kobayashi K

    更新日期：2009-08-01 00:00:00

  • KOHBRA BRCA risk calculator (KOHCal): a model for predicting BRCA1 and BRCA2 mutations in Korean breast cancer patients.

    abstract：:The widely used Western BRCA mutation prediction models underestimated the risk of having a BRCA mutation in Korean breast cancer patients. This study aimed to identify predictive factors for BRCA1/2 mutations and to develop a Korean BRCA risk calculator. The model was constructed by logistic regression model, and it ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2015.164

    authors： Kang E,Park SK,Lee JW,Kim Z,Noh WC,Jung Y,Yang JH,Jung SH,Kim SW

    更新日期：2016-05-01 00:00:00

  • Polymorphisms of the CD14 gene and atopic phenotypes in Czech patients with IgE-mediated allergy.

    abstract：:IgE-mediated allergy is a common chronic disorder resulting from interactions between genetic and environmental factors. The gene encoding CD14 is a positional candidate gene for allergic diseases as it is localised on chromosome 5q31.1, a region linked to asthma and bronchial hyperresponsiveness. We investigated the ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-006-0050-0

    authors： Bučková D,Hollá LI,Znojil V,Vašků A

    更新日期：2006-01-01 00:00:00

  • The NR4A nuclear receptor family in eosinophils.

    abstract：:It is well-known that many members of the family of nuclear receptors have been implicated in human diseases, and metabolic disorders in particular. The NR4A nuclear receptor family consists of three members, Nur77, Nurr1, and NOR1. All of these are orphan receptors, and Nur77 and NOR1 exert possible pathological role...

    journal_title：Journal of human genetics

    pub_type： 杂志文章,评审

    doi：10.1007/s10038-006-0085-2

    authors： Hashida R,Ohkura N,Saito H,Tsujimoto G

    更新日期：2007-01-01 00:00:00

  • Novel compound heterozygous mutations in the SRD5A2 gene from 46,XY infants with ambiguous external genitalia.

    abstract：:Dihydrotestosterone is crucial for normal development of external genitalia and prostate in the male embryo. Autosomal recessive mutations in the 5 alpha-reductase type 2 (SRD5A2) gene disrupt the synthesis of dihydrotestosterone in the urogenital tract and give rise to genetic males with undervirilized external genit...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-008-0274-2

    authors： Vilchis F,Valdez E,Ramos L,García R,Gómez R,Chávez B

    更新日期：2008-01-01 00:00:00

  • PLA2G6-associated neurodegeneration presenting as a complicated form of hereditary spastic paraplegia.

    abstract：:PLA2G6-associated neurodegeneration (PLAN) comprises heterogeneous neurodegenerative disorders, including infantile neuroaxonal dystrophy, neurodegeneration with brain iron accumulation 2B, and Parkinson disease 14 (PARK14). In addition, very recently, PLA2G6 mutations have been reported to represent a phenotype of he...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/s10038-018-0519-7

    authors： Koh K,Ichinose Y,Ishiura H,Nan H,Mitsui J,Takahashi J,Sato W,Itoh Y,Hoshino K,Tsuji S,Takiyama Y,Japan Spastic Paraplegia Research Consotium.

    更新日期：2019-01-01 00:00:00

  • Y chromosome of Aisin Gioro, the imperial house of the Qing dynasty.

    abstract：:The House of Aisin Gioro is the imperial family of the last dynasty in Chinese history-Qing dynasty (1644-1911). The Aisin Gioro family originated from Jurchen tribes and founded the Manchu people before they conquered China. By investigating the Y chromosomal short tandem repeats (STRs) of seven modern male individua...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2015.28

    authors： Yan S,Tachibana H,Wei LH,Yu G,Wen SQ,Wang CC

    更新日期：2015-06-01 00:00:00