J Med Genet 1999;36:485-489 ( June )

Short report

A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome) Alice S Brooks^{a b}, Martijn H Breuning^{a c}, Jan Osinga^d, Jasper J vd Smagt^c, Corine E Catsman^e, Charles H C M Buys^d, Carel Meijers^{b f}, Robert M W Hofstra^d

^a Department of Clinical Genetics, Erasmus University and University Hospital, Rotterdam, The Netherlands, ^b Department of Paediatric Surgery, Erasmus University and University Hospital, Rotterdam, The Netherlands, ^c Department of Clinical Genetics, University Hospital Leiden, The Netherlands, ^d Department of Medical Genetics, University of Groningen, The Netherlands, ^e Department of Child Neurology, Erasmus University and University Hospital, Rotterdam, The Netherlands, ^f Department of Cell Biology and Genetics, Erasmus University and University Hospital, Rotterdam, The Netherlands

Correspondence to: Dr Meijers, Department of Cell Biology and Genetics, Erasmus University, PO Box 1738, 3000 DR Rotterdam, The Netherlands.

Received 10 June 1998; Revised version accepted for publication 22 October 1998

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.


Keywords: Hirschsprung disease; microcephaly; mental retardation; EDNRB variant

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© 1999 by J Med Genet
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