A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome)

Autor:	Brooks, A. S., Breuning, M. H., Osinga, J., Vd Smagt, J. J., Catsman, C. E., Buys, C. H. C. M., Meijers, C., Robert Hofstra
Přispěvatelé:	Neurology, Pediatric Surgery
Předmět:	EDNRB variant congenital hereditary and neonatal diseases and abnormalities UNUSUAL FACE integumentary system Hirschsprung disease ENDOTHELIN-RECEPTOR-B SHAH-WAARDENBURG SYNDROME GERMLINE MUTATIONS PHENOTYPE mental retardation GENE GDNF RET PROTOONCOGENE microcephaly
Zdroj:	Scopus-Elsevier JOURNAL OF MEDICAL GENETICS, 36(6), 485-489. BMJ PUBLISHING GROUP Journal of Medical Genetics, 36, 485-489. BMJ Publishing Group
ISSN:	0022-2593
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::f741356c287cf6aea41ebdbb83e20155 http://www.scopus.com/inward/record.url?eid=2-s2.0-0033036664&partnerID=MN8TOARS Zobrazit plný text záznamu