ArticleMolecular syndromology2015
A novel mutation in the endothelin B receptor gene in a moroccan family with shah-waardenburg syndrome.
Article in Molecular syndromology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.
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Who cites it
10 citing papers in PubMed, 1 synthesis or guideline pooled it, 30 citations in OpenAlex.
- Genetics of Waardenburg Syndrome in Africa: A Systematic Review.International journal of molecular sciences · 2025Pooled it
- Vestibular Deficit in Patients with Waardenburg Syndrome.Biomedicines · 2025Article
- Comprehensive characterization of the genetic landscape of familial Hirschsprung's disease.World journal of pediatrics : WJP · 2023Review
- Single-cell RNA-sequencing of stria vascularis cells in the adult Slc26a4BMC medical genomics · 2023Article
- Perioperative Care of a Patient With Waardenburg Syndrome.Journal of medical cases · 2021Article
- Frameshift variant in MITF gene in a large family with Waardenburg syndrome type II and a co-segregation of a C2orf74 variant.PloS one · 2021Article
- [Syndromic Hirschsprung′s disease and its mode of inheritance].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2018Review
- A de novo deletion mutation in SOX10 in a Chinese family with Waardenburg syndrome type 4.Scientific reports · 2017Article
- Hirschsprung's disease: clinical dysmorphology, genes, micro-RNAs, and future perspectives.Pediatric research · 2017Review
- Whole genome genotyping mapped regions on chromosome 2 and 18 in a family segregating Waardenburg syndrome type II.Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological SocietyArticle
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8 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
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.
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