当前位置： SCI文献检索 > JOURNAL OF HUMAN GENETICS期刊下所有文献 > Autosomal dominant cutis laxa with progeroid features due to a novel, de novo mutation in ALDH18A1.

Autosomal dominant cutis laxa with progeroid features due to a novel, de novo mutation in ALDH18A1.

Abstract：

:De novo dominant mutations in the aldehyde dehydrogenase 18 family member A1 (ALDH18A1) gene have recently been shown to cause autosomal dominant cutis laxa with progeroid features (MIM 616603). To date, all de novo dominant mutations have been found in a single highly conserved amino acid residue at position p.Arg138. We report an 8-year-old male with a clinical diagnosis of autosomal dominant cutis laxa (ADCL) with progeroid features and a novel de novo missense mutation in ALDH18A1 (NM_002860.3: c.377G>A (p.Arg126His)). This is the first report of an individual with ALDH18A1-ADCL due to a substitution at a residue other than p.Arg138. Knowledge of the complete spectrum of dominant-acting mutations that cause this rare syndrome will have implications for molecular diagnosis and genetic counselling of these families.

journal_name

J Hum Genet

journal_title

Journal of human genetics

authors

Bhola PT,Hartley T,Bareke E,Care4Rare Canada Consortium.,Boycott KM,Nikkel SM,Dyment DA

doi

10.1038/jhg.2017.18

subject

Has Abstract

pub_date

2017-06-01 00:00:00

pages

661-663

issue

6

eissn

1434-5161

issn

1435-232X

pii

jhg201718

journal_volume

62

pub_type

杂志文章

相关文献

JOURNAL OF HUMAN GENETICS文献大全
  • High-resolution SNP map of ASPN, a susceptibility gene for osteoarthritis.

    abstract：:Osteoarthritis (OA) is a very common bone and joint disease characterized by breakdown of cartilage in the joint. We recently found that an aspartic-acid repeat polymorphism of the asporin gene (ASPN) on chromosome 9 is associated with susceptibility to OA in Japanese. We provide here a high-resolution single nucleoti...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-005-0337-6

    authors： Iida A,Kizawa H,Nakamura Y,Ikegawa S

    更新日期：2006-01-01 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

  • 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

  • An Ile/Val polymorphism at codon 1464 of the ATP7A gene.

    abstract：:An isoleucine/valine polymorphism was observed at codon 1464 of the ATP7A gene, which is thought to encode a copper transporting adenosine triphosphatase (ATPase). The frequency of Val1464 was estimated to be 5.7% in the Japanese population. This polymorphism may be useful in genetic studies of Menkes disease. ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380050194

    authors： Ogawa A,Yamamoto S,Takayanagi M,Kogo T,Kanazawa M,Kohno Y

    更新日期：1999-01-01 00:00:00

  • Association study of ubiquitin-specific peptidase 46 (USP46) with bipolar disorder and schizophrenia in a Japanese population.

    abstract：:Recently, ubiquitin-specific peptidase 46 (Usp46) has been identified as a quantitative trait gene responsible for immobility in the tail suspension test and forced swimming test in mice. Mice with 3-bp deletion in Usp46 exhibited loss of 'behavioral despair' under inescapable stresses in addition to abnormalities in ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2009.139

    authors： Kushima I,Aleksic B,Ito Y,Nakamura Y,Nakamura K,Mori N,Kikuchi M,Inada T,Kunugi H,Nanko S,Kato T,Yoshikawa T,Ujike H,Suzuki M,Iwata N,Ozaki N

    更新日期：2010-03-01 00:00:00

  • Expression profiles of two types of human knee-joint cartilage.

    abstract：:We have performed a comprehensive analysis of gene-expression profiles in human articular cartilage (hyaline cartilage) and meniscus (fibrocartilage) by means of a cDNA microarray consisting of 23,040 human genes. Comparing the profiles of the two types of cartilage with those of 29 other normal human tissues identifi...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-003-0004-8

    authors： Ochi K,Daigo Y,Katagiri T,Saito-Hisaminato A,Tsunoda T,Toyama Y,Matsumoto H,Nakamura Y

    更新日期：2003-01-01 00:00:00

  • Rare pseudoautosomal copy-number variations involving SHOX and/or its flanking regions in individuals with and without short stature.

    abstract：:Pseudoautosomal region 1 (PAR1) contains SHOX, in addition to seven highly conserved non-coding DNA elements (CNEs) with cis-regulatory activity. Microdeletions involving SHOX exons 1-6a and/or the CNEs result in idiopathic short stature (ISS) and Leri-Weill dyschondrosteosis (LWD). Here, we report six rare copy-numbe...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2015.53

    authors： Fukami M,Naiki Y,Muroya K,Hamajima T,Soneda S,Horikawa R,Jinno T,Katsumi M,Nakamura A,Asakura Y,Adachi M,Ogata T,Kanzaki S,Japanese SHOX study group.

    更新日期：2015-09-01 00:00:00

  • Molecular cloning of a novel human gene (SIRP-B2) which encodes a new member of the SIRP/SHPS-1 protein family.

    abstract：:A full-length cDNA encoding a novel protein was isolated and sequenced from a human placental cDNA library. This cDNA consists of 1,735 base pairs and has a predicted open reading frame (ORF) encoding 354 amino acids. It possesses a putative signal sequence, a long extracellular domain, a transmembrane region, a short...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380070013

    authors： Ichigotani Y,Matsuda S,Machida K,Oshima K,Iwamoto T,Yamaki K,Hayakawa T,Hamaguchi M

    更新日期：2000-01-01 00:00:00

  • Rapid identification of an A1555G mutation in human mitochondrial DNA implicated in aminoglycoside-induced ototoxicity.

    abstract：:This article describes a multiplex allele-specific PCR (AS-PCR) approach for detection of an A to G mutation occurring in the human mitochondrial 12s RNA gene at nucleotide 1555. Possession of this mutation has been shown to be associated with irreversible hearing loss following administration of aminoglycoside antibi...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380050184

    authors： Scrimshaw BJ,Faed JM,Tate WP,Yun K

    更新日期：1999-01-01 00:00:00

  • Anticipation in Japanese families with schizophrenia.

    abstract：:The identification of anticipation in schizophrenia is a recent focus in the genetic epidemiology of schizophrenia, although it involves some controversial methodological issues. We explored the evidence of anticipation among 44 Japanese two-generation pairs with schizophrenia found by reviewing nine years of admissio...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380050076

    authors： Imamura A,Honda S,Nakane Y,Okazaki Y

    更新日期：1998-01-01 00:00:00

  • Identification of a novel single base-pair polymorphism in the glutamate dehydrogenase (GLUD1) gene.

    abstract：:A novel single base-pair polymorphism, G/A at ntd 955, was identified within the coding region of the glutamate dehydrogenase gene (GLUD1). This polymorphism should prove useful for the study of human disorders with altered ammonia and/or blood glucose levels. ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380050158

    authors： Muroi J,Uematsu A,Yorifuji T

    更新日期：1999-01-01 00:00:00

  • Functional analysis of PKHD1 splicing in autosomal recessive polycystic kidney disease.

    abstract：:Autosomal recessive polycystic kidney disease (ARPKD) is caused by mutations in the PKHD1 (polycystic kidney and hepatic disease 1) gene on chromosome 6p12. The longest continuous open reading frame comprises 66 exons encoding a novel 4,074 aa multidomain integral membrane protein (polyductin/fibrocystin) of unknown f...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-006-0022-4

    authors： Bergmann C,Frank V,Küpper F,Schmidt C,Senderek J,Zerres K

    更新日期：2006-01-01 00:00:00

  • Overestimated frequency of a possible emphysema-susceptibility allele when microsomal epoxide hydrolase is genotyped by the conventional polymerase chain reaction-based method.

    abstract：:A recent association study suggested that the His113 variant of microsomal epoxide hydrolase (mEPHX) may confer a risk for development of emphysema, presumably by increasing susceptibility to smoking injury. Before considering a possible role of this enzyme in pulmonary disease, we attempted to characterize the geneti...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380170116

    authors： Keicho N,Emi M,Kajita M,Matsushita I,Nakata K,Azuma A,Ohishi N,Kudoh S

    更新日期：2001-01-01 00:00:00

  • Biochemical characterization of novel glucokinase mutations isolated from Spanish maturity-onset diabetes of the young (MODY2) patients.

    abstract：:Mature-onset diabetes of the young, type 2 (MODY2) is associated with mutations in the glucokinase (GCK) gene that result in impaired glucokinase activity. Although more than 200 inactivating GCK mutations have been reported, only less than 20% of these mutations have been functionally characterized. In this work, we ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-008-0271-5

    authors： Estalella I,Garcia-Gimeno MA,Marina A,Castaño L,Sanz P

    更新日期：2008-01-01 00:00:00

  • Frequencies of spinocerebellar ataxia subtypes in Thailand: window to the population history?

    abstract：:Spinocerebellar ataxias (SCAs) are a heterogeneous group of disorders with almost 30 subtypes. The prevalence and relative frequency of each subtype vary among different populations. In this article, we report the relative frequency of six SCA subtypes in the Thai population and attempt to explain the observed pattern...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2009.27

    authors： Sura T,Eu-Ahsunthornwattana J,Youngcharoen S,Busabaratana M,Dejsuphong D,Trachoo O,Theerasasawat S,Tunteeratum A,Noparutchanodom C,Tunlayadechanont S

    更新日期：2009-05-01 00:00:00

  • Erratum to: Huntington disease mutation in Venezuela: age of onset, haplotype analyses and geographic aggregation.

    abstract：:In Table 2, a column heading was inadvertently omitted. Corrected table is as follows. ...

    journal_title：Journal of human genetics

    pub_type： 已发布勘误

    doi：10.1007/s10038-008-0256-4

    authors： Paradisi I,Hernández A,Arias S

    更新日期：2008-04-01 00:00:00

  • A grid-search algorithm for optimal allocation of sample size in two-stage association studies.

    abstract：:Multiple testing occurs commonly in genome-wide association studies with dense SNPs map. With numerous SNPs, not only the genotyping cost and time increase dramatically, many family wise error rate (FWER) controlling methods may fail for being too conservative and of less power when detecting SNPs associated with dise...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-007-0159-9

    authors： Wen SH,Hsiao CK

    更新日期：2007-01-01 00:00:00

  • A missense mutation in the chloride/proton ClC-5 antiporter gene results in increased expression of an alternative mRNA form that lacks exons 10 and 11. Identification of seven new CLCN5 mutations in patients with Dent's disease.

    abstract：:Mutations in the voltage-gated chloride/proton antiporter ClC-5 gene, CLCN5, are associated with Dent's disease, an X-linked renal tubulopathy. Our interest is to identify and characterize disease-causing CLCN5 mutations, especially those that alter the splicing of the pre-mRNA. We analyzed the CLCN5 gene from nine un...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-007-0112-y

    authors： Ramos-Trujillo E,González-Acosta H,Flores C,García-Nieto V,Guillén E,Gracia S,Vicente C,Espinosa L,Maseda MAF,Santos F,Camacho JA,Claverie-Martín F

    更新日期：2007-01-01 00:00:00

  • Compound heterozygous GFM2 mutations with Leigh syndrome complicated by arthrogryposis multiplex congenita.

    abstract：:Defects in the mitochondrial translation apparatus can impair energy production in affected tissues and organs. Most components of this apparatus are encoded by nuclear genes, including GFM2, which encodes a mitochondrial ribosome recycling factor. A few patients with mutations in some of these genes have been reporte...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2015.57

    authors： Fukumura S,Ohba C,Watanabe T,Minagawa K,Shimura M,Murayama K,Ohtake A,Saitsu H,Matsumoto N,Tsutsumi H

    更新日期：2015-09-01 00:00:00

  • Novel GATAD2B loss-of-function mutations cause intellectual disability in two unrelated cases.

    abstract：:GATA zinc finger domain-containing 2B (GATAD2B) is a subunit of the methyl-CpG-binding protein-1 complex (MECP1), which deacetylates methylated nucleosomes and regresses transcriptional activity. Recently, GATAD2B has been elucidated as a candidate gene in patients with intellectual disability (ID). In this study, we ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2016.164

    authors： Luo X,Zou Y,Tan B,Zhang Y,Guo J,Zeng L,Zhang R,Tan H,Wei X,Hu Y,Zheng Y,Liang D,Wu L

    更新日期：2017-04-01 00:00:00

  • Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements.

    abstract：:Hypohidrotic ectodermal dysplasia (HED), a rare and heterogeneous hereditary disorder, is characterized by deficient development of multiple ectodermal structures including hair, sweat glands and teeth. If caused by mutations in the genes EDA, EDA1R or EDARADD, phenotypes are often very similar as the result of a comm...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2016.75

    authors： Wohlfart S,Hammersen J,Schneider H

    更新日期：2016-10-01 00:00:00

  • Robust imaging and gene delivery to study human lymphoblastoid cell lines.

    abstract：:Lymphoblastoid cell lines (LCLs) have been by far the most prevalent cell type used to study the genetics underlying normal and disease-relevant human phenotypic variation, across personal to epidemiological scales. In contrast, only few studies have explored the use of LCLs in functional genomics and mechanistic stud...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/s10038-018-0483-2

    authors： Jolly LA,Sun Y,Carroll R,Homan CC,Gecz J

    更新日期：2018-09-01 00:00:00

  • Redefining the disease locus of 16q22.1-linked autosomal dominant cerebellar ataxia.

    abstract：:The 16q22.1-linked autosomal dominant cerebellar ataxia (16q-ADCA; Online Mendelian Inheritance in Man [OMIN] #117210) is one of the most common ADCAs in Japan. Previously, we had reported that the patients share a common haplotype by founder effect and that a C-to-T substitution (-16C>T) in the puratrophin-1 gene was...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-007-0154-1

    authors： Amino T,Ishikawa K,Toru S,Ishiguro T,Sato N,Tsunemi T,Murata M,Kobayashi K,Inazawa J,Toda T,Mizusawa H

    更新日期：2007-01-01 00:00:00

  • Novel pericentric inversion inv(9)(p23q22.3) in unrelated individuals with fertility problems in the Southeast European population.

    abstract：:Pericentric inversions are among the known polymorphisms detected in the general population at a frequency of 1-2%. Despite their generally benign nature, pericentric inversions affect the reproductive potential of carriers by increasing the risk for unbalanced live-born offspring, miscarriages, or other fertility pro...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/s10038-020-0769-z

    authors： Sismani C,Rapti SM,Iliopoulou P,Spring A,Neroutsou R,Lagou M,Robola M,Tsitsopoulos E,Kousoulidou L,Alexandrou A,Papaevripidou I,Theodosiou A,Syrrou M,Fuchs S,Hempel M,Huhle D,Liehr T,Ziegler M,Duesberg M,Velissariou

    更新日期：2020-09-01 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

  • 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

  • Variations in/nearby genes coding for JAZF1, TSPAN8/LGR5 and HHEX-IDE and risk of type 2 diabetes in Han Chinese.

    abstract：:Several genetic loci (JAZF1, CDC123/CAMK1D, TSPAN8/LGR5, ADAMTS9, VEGFA and HHEX-IDE) were identified to be significantly related to the risk of type 2 diabetes and quantitative metabolic traits in European populations. Here, we aimed to evaluate the impacts of these novel loci on type 2 diabetes risk in a population-...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2010.117

    authors： Zhou DZ,Liu Y,Zhang D,Liu SM,Yu L,Yang YF,Zhao T,Chen Z,Kan MY,Zhang ZF,Feng GY,Xu H,He L

    更新日期：2010-12-01 00:00:00

  • Novel mutations of EVER1/TMC6 gene in a Japanese patient with epidermodysplasia verruciformis.

    abstract：:Germline mutations of the EVER1/TMC6 gene are associated with epidermodysplasia verruciformis (EV), which is characterized by an abnormal susceptibility to human papillomaviruses that were considered to be innocuous for the general population. In this study, we have employed polymerase chain reaction and DNA sequencin...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-004-0135-6

    authors： Tate G,Suzuki T,Kishimoto K,Mitsuya T

    更新日期：2004-01-01 00:00:00

  • A systematic review of predicted pathogenic PALB2 variants: an analysis of mutational overlap between epithelial cancers.

    abstract：:Partner and localiser of BRCA2 forms part of a macromolecular complex with BRCA1 and BRCA2, which is critical for the repair of double-strand DNA breaks by homologous DNA recombination. Germline loss-of-function variants in the PALB2 gene may confer an increased lifetime risk of breast, pancreatic, ovarian and other c...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/s10038-019-0680-7

    authors： Janssen B,Bellis S,Koller T,Tischkowitz M,Liau SS

    更新日期：2020-01-01 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