A novel mutation in the endothelin B receptor gene in a moroccan family with shah-waardenburg syndrome.

Content Provider	Europe PMC
Author	Doubaj, Yassamine Pingault, Véronique Elalaoui, Siham C. Ratbi, Ilham Azouz, Mohamed Zerhouni, Hicham Ettayebi, Fouad Sefiani, Abdelaziz
Copyright Year	2015
Abstract	Waardenburg syndrome (WS) is a neurocristopathy disorder combining sensorineural deafness and pigmentary abnormalities. The presence of additional signs defines the 4 subtypes. WS type IV, also called Shah-Waardenburg syndrome (SWS), is characterized by the association with congenital aganglionic megacolon (Hirschsprung disease). To date, 3 causative genes have been related to this congenital disorder. Mutations in the EDNRB and EDN3 genes are responsible for the autosomal recessive form of SWS, whereas SOX10 mutations are inherited in an autosomal dominant manner. We report here the case of a 3-month-old Morrocan girl with WS type IV, born to consanguineous parents. The patient had 3 cousins who died in infancy with the same symptoms. Molecular analysis by Sanger sequencing revealed the presence of a novel homozygous missense mutation c.1133A>G (p.Asn378Ser) in the EDNRB gene. The proband's parents as well as the parents of the deceased cousins are heterozygous carriers of this likely pathogenic mutation. This molecular diagnosis allows us to provide genetic counseling to the family and eventually propose prenatal diagnosis to prevent recurrence of the disease in subsequent pregnancies.
Related Links	https://europepmc.org/backend/ptpmcrender.fcgi?accid=PMC4369116&blobtype=pdf
Page Count	6
ISSN	16618769
Volume Number	6
DOI	10.1159/000371590
PubMed Central reference number	PMC4369116
Issue Number	1
PubMed reference number	25852447
Journal	Molecular Syndromology [Mol Syndromol]
e-ISSN	16618777
Language	English
Publisher	Karger Publishers
Publisher Date	2015-01-28
Publisher Place	Switzerland
Access Restriction	Open
Rights License	Copyright © 2015 by S. Karger AG, Basel
Subject Keyword	EDNRB Moroccan Novel mutation Shah-Waardenburg syndrome
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)