Identifying Candidate Hirschsprung Disease–Associated RET Variants
نویسندگان
چکیده
منابع مشابه
RET Variants and Haplotype Analysis in a Cohort of Czech Patients with Hirschsprung Disease
Hirschsprung disease (HSCR) is a congenital aganglionosis of myenteric and submucosal plexuses in variable length of the intestine. This study investigated the influence and a possible modifying function of RET proto-oncogene's single nucleotide polymorphisms (SNPs) and haplotypes in the development and phenotype of the disease in Czech patients. Genotyping of 14 SNPs was performed using TaqMan...
متن کاملRET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease.
BACKGROUND Hirschsprung disease (HSCR), which may be sporadic or familial, occurs in 1:5000 live births and presents with functional intestinal obstruction secondary to aganglionosis of the hindgut. Germline mutations of the RET proto-oncogene are believed to account for up to 50% of familial cases and up to 30% of isolated cases in most series. However, these series are highly selected for the...
متن کاملc-Ret-mediated hearing loss in mice with Hirschsprung disease.
A significantly increased risk for dominant sensorineural deafness in patients who have Hirschsprung disease (HSCR) caused by endothelin receptor type B and SOX10 has been reported. Despite the fact that c-RET is the most frequent causal gene of HSCR, it has not been determined whether impairments of c-Ret and c-RET cause congenital deafness in mice and humans. Here, we show that impaired phosp...
متن کاملCopy Number Variants in Candidate Genes Are Genetic Modifiers of Hirschsprung Disease
Hirschsprung disease (HSCR) is a neurocristopathy characterized by absence of intramural ganglion cells along variable lengths of the gastrointestinal tract. The HSCR phenotype is highly variable with respect to gender, length of aganglionosis, familiality and the presence of additional anomalies. By molecular genetic analysis, a minimum of 11 neuro-developmental genes (RET, GDNF, NRTN, SOX10, ...
متن کامل1 TITLE : TTF - 1 and RET promoter SNPs : regulation of RET transcription in Hirschsprung ' s disease
Single nucleotide polymorphisms (SNPs) of the coding regions of RET are associated with Hirschsprung’s disease (HSCR, aganglionic megacolon,). These SNPs, individually or combined, may act as a low penetrance susceptibility locus or/and be in linkage disequilibrium (LD) with another susceptibility locus located in RET regulatory regions. Because two RET promoter SNPs have been found associated ...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2005
ISSN: 0002-9297
DOI: 10.1086/429589