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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.
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