Journal of pediatric surgery · 1998
Mutational analysis of the endothelin-B receptor gene in Japanese Hirschsprung's disease.
Клиническое исследованиеСтатьяНазвание и аннотация: Перевод в очереди
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Inoue M, Hosoda K, Imura K, Kamata S, Fukuzawa M, Nakao K, Okada A
Аннотация
BACKGROUND/PURPOSE: Hirschsprung's disease (HD, HSCR) is one of the most common diseases in the field of pediatric surgery. It is well known that the aganglionic bowel is primarily a causative factor of dismotility of distal narrow segment. Recent studies have shown that mutations in endothelin-B receptor (EDNRB), endothelin-3, RET, glial cell line-derived neurotrophic factor (GDNF) genes are responsible for the occurrence of congenital aganglionosis. Here, the authors describe two new mutations of the EDNRB gene in Japanese patients with HD.
RESULTS: One patient had a heterozygous point mutation at the splice donor site of intron 3, leading to premature termination of translation of EDNRB mRNA. Another patient has a heterozygous missense mutation (N1041) in exon 1, but the same mutation was found in two of 50 normal individuals, so the mutation may be a noncausative polymorphism of the EDNRB gene.
CONCLUSION: These results provide further evidence that a spectrum of different mutations within the EDNRB gene are responsible for HD.
RESULTS: One patient had a heterozygous point mutation at the splice donor site of intron 3, leading to premature termination of translation of EDNRB mRNA. Another patient has a heterozygous missense mutation (N1041) in exon 1, but the same mutation was found in two of 50 normal individuals, so the mutation may be a noncausative polymorphism of the EDNRB gene.
CONCLUSION: These results provide further evidence that a spectrum of different mutations within the EDNRB gene are responsible for HD.