当前位置： SCI文献检索 > JOURNAL OF HUMAN GENETICS期刊下所有文献 > Identification of novel MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts (MLC).

Identification of novel MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts (MLC).

Abstract：

:Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an autosomal, recessively inherited disease caused by mutations in the MLC1 gene. Most of the previously published studies have been carried out in ethnic populations other than the Chinese. In this study, the analysis of clinical features and MLC1 mutation screening were performed in 13 Chinese patients for the first time. A total of 10 MLC1 mutations were identified in these patients, including five novel missense mutations (c.65G>A, p.R22Q; c.95C>T, p.A32V; c.218G>A, p.G73E; c.823G>A, p.A275T; c.832T>C, p.Y278H), one novel splicing mutation (c.772-1G>C in IVS9-1), one novel small deletion (c.907_930del, p.V303_L310del), one known nonsense mutation (c.593delCTCA, p.Y198X) and two known missense mutations (c.206C>T, p.S69L; c.353C>T, p.T118M). Mutation c.772-1G>C in IVS9-1, accounting for 27.3% (3/11) of the total number of genetically confirmed patients found in this study, is thus a putative hot-spot mutation in the present study group. The existence of a unique MLC1 mutation spectrum in Chinese MLC patients was shown. A systemic study to assess the mutation spectra in different populations should be undertaken.

journal_name

J Hum Genet

journal_title

Journal of human genetics

authors

Wang J,Shang J,Wu Y,Gu Q,Xiong H,Ding C,Wang L,Gao Z,Wu X,Jiang Y

doi

10.1038/jhg.2010.146

subject

Has Abstract

pub_date

2011-02-01 00:00:00

pages

138-42

issue

2

eissn

1434-5161

issn

1435-232X

pii

jhg2010146

journal_volume

56

pub_type

杂志文章

相关文献

JOURNAL OF HUMAN GENETICS文献大全
  • Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations.

    abstract：:Multiple pterygium syndrome (MPS) is an autosomal recessively inherited condition that becomes evident before birth, with pterygium at multiple joints and akinesia. There are two forms of this syndrome that are differentiated by clinical severity: the milder form, Escobar type (OMIM#265000), and the more severe form, ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2015.2

    authors： Seo J,Choi IH,Lee JS,Yoo Y,Kim NK,Choi M,Ko JM,Shin YB

    更新日期：2015-04-01 00:00:00

  • Participant mothers' attitudes toward genetic analysis in a birth cohort study.

    abstract：:To conduct a long-term birth cohort study that includes genetic analysis, it is crucial to understand the attitudes of participants to genetic analysis and then take appropriate approaches for addressing their ambiguous and negative attitudes. This study aimed to explore participants' attitudes toward genetic analysis...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/s10038-020-00894-7

    authors： Yamamoto M,Sakurai K,Mori C,Hata A

    更新日期：2021-01-25 00:00:00

  • A novel expression system for genomic DNA loci using a human artificial chromosome vector with transformation-associated recombination cloning.

    abstract：:Following the recent completion of the human genome sequence, genomics research has shifted its focus to understanding gene complexity, expression, and regulation. However, in order to investigate such issues, there is a need to develop a practical system for genomic DNA expression. Transformation-associated recombina...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-005-0300-6

    authors： Ayabe F,Katoh M,Inoue T,Kouprina N,Larionov V,Oshimura M

    更新日期：2005-01-01 00:00:00

  • Association of melanocortin 1 receptor gene (MC1R) polymorphisms with skin reflectance and freckles in Japanese.

    abstract：:Most studies on the genetic basis of human skin pigmentation have focused on people of European ancestry and only a few studies have focused on Asian populations. We investigated the association of skin reflectance and freckling with genetic variants of melanocortin 1 receptor (MC1R) gene in Japanese. DNA samples were...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2012.96

    authors： Yamaguchi K,Watanabe C,Kawaguchi A,Sato T,Naka I,Shindo M,Moromizato K,Aoki K,Ishida H,Kimura R

    更新日期：2012-11-26 00:00:00

  • Allelic structures at hypervariable minisatellite B6.7 in Japanese show population specificity.

    abstract：:Human minisatellite B6.7 shows extensive allele length and structural variability in north Europeans. We analysed this locus in the Japanese population. Allele size distributions showed that Japanese retain extensive allele length variability but have significantly smaller alleles compared with north Europeans. In con...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380200031

    authors： Mizukoshi T,Tamaki K,Azumi J,Matsumoto H,Imai K,Jeffreys AJ

    更新日期：2002-01-01 00:00:00

  • Three novel mutations of the FBN1 gene in Chinese children with acromelic dysplasia.

    abstract：:Geleophysic dysplasia (GD), acromicric dysplasia (AD) and Weill-Marchesani syndrome (WMS) are rare disorders with overlapping characteristics, such as short stature, short hands and feet, joint limitations, skin thickening, mild facial anomalies, normal intelligence and abnormal skeletal symptoms, with GD distinct by ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2014.73

    authors： Wang Y,Zhang H,Ye J,Han L,Gu X

    更新日期：2014-10-01 00:00:00

  • Genomic structure and chromosomal mapping of the human site-1 protease (S1P) gene.

    abstract：:Site-1 protease (S1P) is a subtilisin-related enzyme that cleaves sterol regulatory element-binding proteins (SREBPs) in the lumen of endoplasmic reticulum, thereby initiating the release of transcriptionally active NH2-terminal fragments of SREBPs from membranes. In the experiments reported here, we localized the hum...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380070029

    authors： Nakajima T,Iwaki K,Kodama T,Inazawa J,Emi M

    更新日期：2000-01-01 00:00:00

  • Association of variants in genes involved in environmental chemical metabolism and risk of cryptorchidism and hypospadias.

    abstract：:We hypothesized that single-nucleotide polymorphisms (SNPs) of genes involved in environmental endocrine disruptors (EEDs) metabolism might influence the risk of male genital malformations. In this study, we explored for association between 384 SNPs in 15 genes (AHR, AHRR, ARNT, ARNT2, NR1I2, RXRA, RXRB, RXRG, CYP1A1,...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2012.48

    authors： Qin XY,Kojima Y,Mizuno K,Ueoka K,Massart F,Spinelli C,Zaha H,Okura M,Yoshinaga J,Yonemoto J,Kohri K,Hayashi Y,Ogata T,Sone H

    更新日期：2012-07-01 00:00:00

  • The SCARB1 gene is associated with lipid response to dietary and pharmacological interventions.

    abstract：:The scavenger receptor class B type 1 (SCARB1) gene is a key component in the reverse cholesterol transport pathway and thus plays an important role in lipid metabolism. Studies suggest that the SCARB1 gene may contribute to variation in plasma lipid levels at fasting; however, the results have been inconsistent, and ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-008-0302-2

    authors： Liu Y,Ordovas JM,Gao G,Province M,Straka RJ,Tsai MY,Lai CQ,Zhang K,Borecki I,Hixson JE,Allison DB,Arnett DK

    更新日期：2008-01-01 00:00:00

  • Association between four SNPs on chromosome 9p21 and myocardial infarction is replicated in an Italian population.

    abstract：:Genome-wide single nucleotide polymorphism (SNP) association studies recently identified four SNPs (rs10757274, rs2383206, rs2383207, and rs10757278) on chromosome 9p21 that were associated with coronary artery disease (CAD) and myocardial infarction (MI) in Caucasian populations from northern Europe and North America...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-007-0230-6

    authors： Shen GQ,Rao S,Martinelli N,Li L,Olivieri O,Corrocher R,Abdullah KG,Hazen SL,Smith J,Barnard J,Plow EF,Girelli D,Wang QK

    更新日期：2008-01-01 00:00:00

  • HLA and CTLA4 polymorphisms may confer a synergistic risk in the susceptibility to Graves' disease.

    abstract：:Graves' disease (GD) is an autoimmune disease characterized by hyperthyroidism due to the presence of autoantibodies against thyroid-stimulating hormone receptor, which is measured as thyroid-stimulating hormone-binding inhibitory immunoglobulin (TBII). Most of the GD patients are TBII-positive, but TBII is undetectab...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2010.20

    authors： Takahashi M,Kimura A

    更新日期：2010-05-01 00:00:00

  • Preferential reduction of dicentrics in reciprocal exchanges due to the combination of the size of broken chromosome segments by radiation.

    abstract：:Induction rates of the dicentrics and translocations involving chromosomes 2 and 4 in peripheral lymphocytes irradiated with X-rays at a dose of 3 Gy were examined using a conventional Giemsa staining method and a chromosome painting method. In total, 228 reciprocal exchanges detected in 982 metaphases were classified...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-003-0071-x

    authors： Zhang W,Hayata I

    更新日期：2003-01-01 00:00:00

  • Investigation of novel variations of ORAI1 gene and their association with Kawasaki disease.

    abstract：:ORAI1 encodes a calcium channel essential in the store-operated calcium entry mechanism. A previous genetic association study identified a rare in-frame insertion variant of ORAI1 conferring Kawasaki disease (KD). To deepen our understanding of the involvement of rare variants of ORAI1 in KD pathogenesis, we investiga...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/s10038-019-0588-2

    authors： Thiha K,Mashimo Y,Suzuki H,Hamada H,Hata A,Hara T,Tanaka T,Ito K,Onouchi Y,Japan Kawasaki Disease Genome Consortium.

    更新日期：2019-06-01 00:00:00

  • Mutation identification and characterization of a Taiwanese patient with fucosidosis.

    abstract：:Fucosidosis is a rare lysosomal storage disease caused by a defect of the alpha-L: -fucosidase (FUCA1) gene. Worldwide 26 mutations underlying the disease have been reported. By direct DNA sequencing of exons and flanking introns, homozygous Y126X mutation and Q281R polymorphism were found in a Taiwanese patient with ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-007-0136-3

    authors： Lin SP,Chang JH,de la Cadena MP,Chang TF,Lee-Chen GJ

    更新日期：2007-01-01 00:00:00

  • Phylogeny of Y-chromosome haplogroup C3b-F1756, an important paternal lineage in Altaic-speaking populations.

    abstract：:In previous studies, a specific paternal lineage with a null value for the Y-chromosome short tandem repeat (Y-STR) marker DYS448 was identified as common among Mongolic- and Turkic-speaking populations. This paternal lineage (temporarily named C3*-DYS448del) was determined to be M217+, M93-, P39-, M48-, M407-, and P5...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2017.60

    authors： Wei LH,Huang YZ,Yan S,Wen SQ,Wang LX,Du PX,Yao DL,Li SL,Yang YJ,Jin L,Li H

    更新日期：2017-10-01 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

  • De novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal reflux.

    abstract：:MEIS2 aberrations are considered to be the cause of intellectual disability, cleft palate and cardiac septal defect, as MEIS2 copy number variation is often observed with these phenotypes. To our knowledge, only one nucleotide-level change-specifically, an in-frame MEIS2 deletion-has so far been reported. Here, we rep...

    journal_title：Journal of human genetics

    pub_type： 杂志文章,评审

    doi：10.1038/jhg.2016.54

    authors： Fujita A,Isidor B,Piloquet H,Corre P,Okamoto N,Nakashima M,Tsurusaki Y,Saitsu H,Miyake N,Matsumoto N

    更新日期：2016-09-01 00:00:00

  • Mutation spectrum of α-Galactosidase gene in Japanese patients with Fabry disease.

    abstract：:The efficacy of pharmacological chaperone therapy for Fabry disease depends on the type of α-galactosidase A (GLA) mutations. Here, we examined the mutation spectrum of the GLA gene among patients from 115 Japanese families with Fabry disease. Of these, no pathogenic mutations were identified in six families (5.2%). I...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/s10038-019-0599-z

    authors： Kobayashi M,Ohashi T,Kaneshiro E,Higuchi T,Ida H

    更新日期：2019-07-01 00:00:00

  • Postmortem genetic analysis of sudden unexpected death in infancy: neonatal genetic screening may enable the prevention of sudden infant death.

    abstract：:Tandem mass screening has recently been started in Japan, but genetic screening has yet to be widely performed in neonates and many unexpected deaths are still being reported. We previously reported two cases of sudden infant death that may have been prevented had newborn screening been performed. In this study, we re...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2017.79

    authors： Oshima Y,Yamamoto T,Ishikawa T,Mishima H,Matsusue A,Umehara T,Murase T,Abe Y,Kubo SI,Yoshiura KI,Makita N,Ikematsu K

    更新日期：2017-11-01 00:00:00

  • Epigenetic and genetic alterations of the imprinting disorder Beckwith-Wiedemann syndrome and related disorders.

    abstract：:Genomic imprinting is an epigenetic phenomenon that leads to parent-specific differential expression of a subset of genes. Most imprinted genes form clusters, or imprinting domains, and are regulated by imprinting control regions. As imprinted genes have an important role in growth and development, aberrant expression...

    journal_title：Journal of human genetics

    pub_type： 杂志文章,评审

    doi：10.1038/jhg.2013.51

    authors： Soejima H,Higashimoto K

    更新日期：2013-07-01 00:00:00

  • Pattern of TSC1 and TSC2 germline mutations in Russian patients with tuberous sclerosis.

    abstract：:Tuberous sclerosis (TS) is a rare autosomal-dominant genetic disease. TS is manifested by the development of multiple hamartomas, which affect brain, kidneys, retina, skin and other organs. This study aimed to reveal specific features of molecular epidemiology of TS in Russia. Blood DNA samples from 61 patients with d...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/s10038-018-0416-0

    authors： Suspitsin EN,Yanus GA,Dorofeeva MY,Ledashcheva TA,Nikitina NV,Buyanova GV,Saifullina EV,Sokolenko AP,Imyanitov EN

    更新日期：2018-05-01 00:00:00

  • Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failure.

    abstract：:Premature ovarian failure (POF) is a disorder characterized by amenorrhea and elevated serum gonadotropins before 40 years of age. As X chromosomal abnormalities are often recognized in POF patients, defects of X-linked gene may contribute to POF. Four cases of POF with t(X;autosome) were genetically analyzed. All the...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2010.155

    authors： Nishimura-Tadaki A,Wada T,Bano G,Gough K,Warner J,Kosho T,Ando N,Hamanoue H,Sakakibara H,Nishimura G,Tsurusaki Y,Doi H,Miyake N,Wakui K,Saitsu H,Fukushima Y,Hirahara F,Matsumoto N

    更新日期：2011-02-01 00:00:00

  • New radiological finding by magnetic resonance imaging examination of the brain in Coffin-Lowry syndrome.

    abstract：:We used magnetic resonance imaging (MRI) to examine the brain of a typical Coffin-Lowry syndrome (CLS) patient. There were many small perivascular focal areas of hypointensity in the white matter on T1-weighted images, similar to those found in mucopolysaccharidosis or perivascular leukomalacia. However, these changes...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380050038

    authors： Kondoh T,Matsumoto T,Ochi M,Sukegawa K,Tsuji Y

    更新日期：1998-01-01 00:00:00

  • Analysis of rearrangements of the CFTR gene in patients from Turkey with CFTR-related disorders: frequent exon 2 deletion.

    abstract：:Cystic fibrosis is a hereditary disease that mostly affects the sweat glands, respiratory system, digestive system, and reproductive system. Many and various types of mutations have been reported in CFTR in different ethnicities and countries/regions. Analysis of CFTR gene rearrangements is recommended in patients wit...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/s10038-020-00859-w

    authors： Duz MB,Ozyavuz Cubuk P

    更新日期：2021-03-01 00:00:00

  • Two novel nonsense mutations in GALNT3 gene are responsible for familial tumoral calcinosis.

    abstract：:Ectopic periarticular calcifications associated with elevated levels of serum phosphate represent the principal clinical features of hyperphosphatemic familial tumoral calcinosis (HFTC), a rare autosomal recessive metabolic disorder. The disease can be caused by recessive mutations in at least two different genes: Gal...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-007-0126-5

    authors： Barbieri AM,Filopanti M,Bua G,Beck-Peccoz P

    更新日期：2007-01-01 00:00:00

  • The genomic structure and expression of MJD, the Machado-Joseph disease gene.

    abstract：:Machado-Joseph disease (MJD) is an autosomal dominant neurodegenerative disorder that is clinically characterized by cerebellar ataxia and various associated symptoms. The disease is caused by an unstable expansion of the CAG repeat in the MJD gene. This gene is mapped to chromosome 14q32.1. To determine its genomic s...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380170060

    authors： Ichikawa Y,Goto J,Hattori M,Toyoda A,Ishii K,Jeong SY,Hashida H,Masuda N,Ogata K,Kasai F,Hirai M,Maciel P,Rouleau GA,Sakaki Y,Kanazawa I

    更新日期：2001-01-01 00:00:00

  • Correction to: DNA analysis of benign adult familial myoclonic epilepsy reveals associations between the pathogenic TTTCA repeat insertion in SAMD12 and the nonpathogenic TTTTA repeat expansion in TNRC6A.

    abstract：:An amendment to this paper has been published and can be accessed via a link at the top of the paper. ...

    journal_title：Journal of human genetics

    pub_type： 已发布勘误

    doi：10.1038/s10038-020-00867-w

    authors： Terasaki A,Nakamura M,Urata Y,Hiwatashi H,Yokoyama I,Yasuda T,Onuma T,Wada K,Kaneko S,Kan R,Niwa SI,Hashimoto O,Komure O,Goto YI,Yamagishi Y,Nakano M,Furusawa Y,Sano A

    更新日期：2020-11-13 00:00:00

  • DBGSA: a novel method of distance-based gene set analysis.

    abstract：:When compared with single gene functional analysis, gene set analysis (GSA) can extract more information from gene expression profiles. Currently, several gene set methods have been proposed, but most of the methods cannot detect gene sets with a large number of minor-effect genes. Here, we propose a novel distance-ba...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2012.86

    authors： Li J,Wang L,Xu L,Zhang R,Huang M,Wang K,Xu J,Lv H,Shang Z,Zhang M,Jiang Y,Guo M,Li X

    更新日期：2012-10-01 00:00:00

  • Myocilin and optineurin coding variants in Hispanics of Mexican descent with POAG.

    abstract：:Coding variants in both myocilin (MYOC) and optineurin (OPTN) are reported risk factors for primary open-angle glaucoma (POAG) in many populations. This study investigated the contribution of MYOC and OPTN coding variants in Hispanics of Mexican descent with and without POAG. We conducted a case-control study of unrel...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2010.91

    authors： McDonald KK,Abramson K,Beltran MA,Ramirez MG,Alvarez M,Ventura A,Santiago-Turla C,Schmidt S,Hauser MA,Allingham RR

    更新日期：2010-10-01 00:00:00

  • A systematic analysis highlights multiple long non-coding RNAs associated with cardiometabolic disorders.

    abstract：:Genome-wide association studies (GWAS) have identified many susceptibility loci for cardiometabolic disorders. Most of the associated variants reside in non-coding regions of the genome including long non-coding RNAs (lncRNAs), which are thought to play critical roles in diverse biological processes. Here, we leverage...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/s10038-017-0403-x

    authors： Ghanbari M,Peters MJ,de Vries PS,Boer CG,van Rooij JGJ,Lee YC,Kumar V,Uitterlinden AG,Ikram MA,Wijmenga C,Ordovas JM,Smith CE,van Meurs JBJ,Erkeland SJ,Franco OH,Dehghan A

    更新日期：2018-04-01 00:00:00