thesis
Genetics of Syndromic and Non-Syndromic
Hirschsprung Disease
- Publication date
- 7 December 2005
- Publisher
- Hirschsprung disease, mental retardation, microcephaly, and specific craniofacial dysmorphism
were observed in three children from a large, consanguineous, Moroccan family. A fourth child
showed similar clinical features, with the exception of Hirschsprung disease. The association of
these abnormalities in these children represents the Goldberg-Shprintzen syndrome (OMIM
235730). Mutation scanning of genes potentially involved in Hirschsprung disease, RET, GDNF,
EDN3, and EDNRB, showed a sequence variant, Ser305Asn, in exon 4 of the EDNRB gene in the
index patient of this family. The Ser305Asn substitution present in two of the four patients and
four healthy relatives and absent in one of the remaining two patients illustrates the difficulties in
interpreting the presence of mutations in families with Hirschsprung disease. It is unlikely that the
EDNRB variant contributes to the phenotype. This consanguineous family might be useful for the
identification of a Goldberg-Shprintzen locus.