Human Molecular Genetics, Vol 5, 347-349, Copyright © 1996 by Oxford University Press
T Kusafuka, Y Wang and P Puri
Hirschsprung's disease (HSCR) is characterized by the absence of autonomic
ganglion cells in the terminal bowel and is a relatively common cause of
intestinal obstruction in the newborn. The incidence of HSCR is estimated
to be 1 in 5000 live births. Recently, the endothelin- B receptor (EDNRB)
gene has been shown as a susceptibility gene for HSCR by the production of
aganglionic colon in mice with a null mutation of this gene and by
demonstrating a missense mutation in a large inbred kindred with a high
incidence of HSCR (Mennonite pedigree). However, no further mutations have
been demonstrated in other clinical cases. We analysed alterations of the
EDNRB gene in 41 isolated patients of HSCR. Two novel mutations were
detected: a G to A transition at nucleotide 824 and an insertion of T at
nucleotide 878. Both mutations resulted in stop codons, predicted to
produce a truncated and non-functional endothelin-B receptor. These
observations indicate that dysfunction or loss of function of endothelin-B
receptor may be involved in the aetiology of some isolated patients with
HSCR.
ARTICLES
Novel mutations of the endothelin-B receptor gene in isolated patients with Hirschsprung's disease
Children's Research Centre, Our Lady's Hospital for Sick Children, Dublin, Ireland.
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