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 common signaling pathway. Single-nucleotide polymorphisms (SNPs) affecting any gene product in this pathway may cause inter- and intrafamilial variability. In a cohort of 124 HED patients, genotyping was attempted by Sanger sequencing of EDA, EDA1R, EDARADD, TRAF6 and EDA2R and by multiplex ligation-dependent probe amplification (MLPA). Pathogenic mutations were detected in 101 subjects with HED, affecting EDA, EDA1R and EDARADD in 88%, 9% and 3% of the cases, respectively, and including 23 novel mutations. MLPA revealed exon copy-number variations in five unrelated HED families (two deletions and three duplications). In four of them, the genomic breakpoints could be localized. The EDA1R variant rs3827760 (p.Val370Ala), known to lessen HED-related symptoms, was found only in a single individual of Asian origin, but in none of the 123 European patients. Another SNP, rs1385699 (p.Arg57Lys) in EDA2R, however, appeared to have some impact on the hair phenotype of European subjects with EDA mutations.
journal_name
J Hum Genetjournal_title
Journal of human geneticsauthors
Wohlfart S,Hammersen J,Schneider Hdoi
10.1038/jhg.2016.75subject
Has Abstractpub_date
2016-10-01 00:00:00pages
891-897issue
10eissn
1434-5161issn
1435-232Xpii
jhg201675journal_volume
61pub_type
杂志文章abstract::Although the Japanese population has a rather low genetic diversity, we recently confirmed the presence of two main clusters (the Hondo and Ryukyu clusters) through principal component analysis of genome-wide single-nucleotide polymorphism (SNP) genotypes. Understanding the genetic differences between the two main clu...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2012.26
更新日期:2012-05-01 00:00:00
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
更新日期:2016-09-01 00:00:00
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
更新日期:1998-01-01 00:00:00
abstract::Plasma lipoprotein-associated phospholipase A2 (Lp-PLA2), also known as platelet-activating factor (PAF) acetylhydrolase (PAF-AH), is a member of the serine-dependent class of A2 phospholipases that hydrolyze sn2-ester bonds of fragmented or oxidized phospholipids at sites where atherosclerotic plaques are forming. Mo...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-004-0151-6
更新日期:2004-01-01 00:00:00
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
更新日期:2006-01-01 00:00:00
abstract::Genomic diversity based on 13 short tandem repeat (STR) loci (D3S1358, vWA, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317, D7S820, D16S539, TH01, TPOX, and CSF1PO) is reported for the first time in Basques from the provinces of Guipúzcoa and Navarre (Spain). STR data from previous studies on Basques from Alava and Viz...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-005-0268-2
更新日期:2005-01-01 00:00:00
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...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2017.18
更新日期:2017-06-01 00:00:00
abstract::Bradycardia is a trigger of ventricular arrhythmias in patients with arrhythmia including Brugada syndrome and long QT syndrome. The HCN4 channel controls the heart rate, and its mutations predispose to inherited sick sinus syndrome and long QT syndrome associated with bradycardia. We found a 4 base-insertion at the s...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2008.16
更新日期:2009-02-01 00:00:00
abstract::Spondylo-epi-metaphyseal dysplasia (SEMD) is a group of inherited skeletal diseases characterized by the anomalies in spine, epiphyses and metaphyses. SEMD is highly heterogeneous and >20 distinct entities have been identified. Here we describe a novel type of SEMD in two unrelated Turkish patients who presented with ...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2017.38
更新日期:2017-08-01 00:00:00
abstract::The classical transmission disequilibrium test (TDT) based on a trio design uses information only on the allele transmitted by a heterozygous parent at a marker locus as homozygous parents are non-informative about linkage. However, the phenotype of an offspring depends on the alleles transmitted by both parents, irre...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2017.9
更新日期:2017-06-01 00:00:00
abstract::Multiple genomic disorders result from recurrent deletions or duplications between low copy repeat (LCR) clusters, mediated by nonallelic homologous recombination. These copy number variants (CNVs) often exhibit variable expressivity and/or incomplete penetrance. However, the population prevalence of many genomic diso...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/s10038-018-0451-x
更新日期:2018-07-01 00:00:00
abstract::Tol2 is an active DNA-based transposable element identified in the medaka fish, Oryzias latipes. Originating from a vertebrate and belonging to the hAT ( hobo/ Activator/ Tam3) transposable element family, featuring a wide distribution among organisms, Tol2 would be expected to be active if introduced into mammals. We...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-003-0016-4
更新日期:2003-01-01 00:00:00
abstract::The transcriptional factor nuclear factor kappa-beta (NFKB) consists of a multicomponent protein complex that plays a major role in the regulation of many viral and cellular genes. The NFKB complex has two alternative DNA binding subunits. We isolated a polymorphic dinucleotide (CA) repeat sequence from a genomic clon...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380050125
更新日期:1999-01-01 00:00:00
abstract::Recently, haplotype-based association studies have become popular for detecting disease-related or drug-response-associated genes. In these studies, it has been gradually recognized that a haplotype block structure is important. A rational and automatic method for identifying the haplotype block structure from SNP dat...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-007-0176-8
更新日期:2007-01-01 00:00:00
abstract::We report a family with progressive myoclonic epilepsy who underwent whole-exome sequencing but was negative for pathogenic variants. Similar clinical courses of a devastating neurodegenerative phenotype of two affected siblings were highly suggestive of a genetic etiology, which indicates that the survey of genetic v...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/s10038-019-0569-5
更新日期:2019-05-01 00:00:00
abstract::Fragile X syndrome (FXS) is a neurodevelopmental disorder and a leading monogenic form of cognitive impairment and autism. It is the most common form of inherited mental retardation in males and a significant cause of mental retardation in females. It is caused by the instability and subsequent expansion of the CGG re...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2010.140
更新日期:2011-01-01 00:00:00
abstract::DNase II is an important enzyme for DNA fragmentation and degradation during programmed cell death and, consequently, a potential candidate gene for genetic study of systemic lupus erythematosus (SLE). Genetic associations of DNase II with SLE and related phenotypes were examined in Korean patients with SLE. A total o...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-004-0227-3
更新日期:2005-01-01 00:00:00
abstract::Sinoatrial node dysfunction and deafness (SANDD) syndrome is rare and characterized by a low heart beat and severe-to-profound deafness. Additional features include fatigue, dizziness, and episodic syncope. The sinoatrial node (SAN) drives heart automaticity and continuously regulates heart rate. The CACNA1D gene enco...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/s10038-018-0542-8
更新日期:2019-02-01 00:00:00
abstract::Intracranial aneurysm (IA) is characterized by an abnormal bulging of one of the arteries in the brain and is heavily affected by genetic factors. Although IA is a very serious disease because of its severity and prevalence in the general public, the gene causing IA has not yet been identified due mainly to the lack o...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2011.27
更新日期:2011-06-01 00:00:00
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 mu...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2010.146
更新日期:2011-02-01 00:00:00
abstract::Interstitial deletion of 7q11.23-q21.11 was identified by cytogenetic methods in a 4-year-old boy with Williams syndrome (WS) and infantile spasms. Deletion of the elastin (ELN) gene and the DNA polymorphic markers, D7S1870, D7S2490, D7S2518, and D7S2421, were identified in the patient, but the loci for D7S653 and D7S...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380050064
更新日期:1998-01-01 00:00:00
abstract::Results of twin studies have shown that autism spectrum disorders (ASDs) are attributable to complex multigenic interactions rather than to a single susceptibility gene. However, the growing number of distinct, individually rare genetic causes of ASDs, mostly copy number variations (CNVs), favors an alternative to the...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2009.105
更新日期:2009-12-01 00:00:00
abstract::Although many studies have been performed to identify mutations in Korean patients with various autosomal-recessive Mendelian disorders (AR-MDs), little is known about the carrier frequencies of AR-MDs in the Korean population. Twenty common mutations from six AR-MDs, including Wilson disease (WD), non-syndromic heari...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2011.144
更新日期:2012-02-01 00:00:00
abstract::Over 100 types of congenital disorders of glycosylation (CDG) have been reported and the number is rapidly increasing. However, each type is very rare and is problematic to diagnose. Mannosyl-oligosaccharide glucosidase (MOGS)-CDG (CDG type IIb) is an extremely rare CDG that has only been reported in three patients fr...
journal_title:Journal of human genetics
pub_type: 杂志文章,评审
doi:10.1038/s10038-017-0386-7
更新日期:2018-03-01 00:00:00
abstract::The name Fon-Jou Hsieh was inadvertently omitted from the list of authors. The name should be added as the third author of the article. ...
journal_title:Journal of human genetics
pub_type: 杂志文章,已发布勘误
doi:10.1007/s10038-006-0367-8
更新日期:2006-03-01 00:00:00
abstract::Leptin, a possible mediator between energy homeostasis, inflammation and cardiovascular disease (CVD), acts via leptin receptors. We investigated association of single-nucleotide polymorphisms (SNPs) and haplotypes of the leptin receptor gene (LEPR) with several CVD risk factors: body mass index, waist circumference (...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2014.82
更新日期:2014-11-01 00:00:00
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
更新日期:2005-01-01 00:00:00
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
更新日期:2001-01-01 00:00:00
abstract::It is well known that individuals with low, or lack of, antibody production in response to hepatitis B surface antigen (HBsAg) exist in the human population. We have previously reported that HLA class I and class II genes are both involved in antibody production to HBsAg, and that specific alleles of HLA are associate...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380170089
更新日期:2001-01-01 00:00:00
abstract::Mutations of OCRL cause Lowe syndrome, which is characterised by congenital cataracts, infantile hypotonia with mental retardation, and renal tubular dysfunction and Dent-2 disease, which only affects the kidney. While few patients with an intermediate phenotype between these diseases have been reported, the mechanism...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/s10038-020-0773-3
更新日期:2020-10-01 00:00:00