ArticleMolecular biology reports2012
Novel mutations of endothelin-B receptor gene in Pakistani patients with Waardenburg syndrome.
Article in Molecular biology reports, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 17 citations in OpenAlex.
- An allelic series at the EDNRB2 locus controls diverse piebalding patterns in the domestic pigeon.PLoS genetics · 2023Article
- Molecular genetic landscape of hereditary hearing loss in Pakistan.Human genetics · 2022Review
- Two Genomic Loci Control Three Eye Colors in the Domestic Pigeon (Columba livia).Molecular biology and evolution · 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
- Waardenburg-Shah syndrome (WS type IV): a rare case from Pakistan.Perioperative medicine (London, England) · 2020Article
- Prenatal diagnosis and genetic counseling for Waardenburg syndrome type I and II in Chinese families.Molecular medicine reports · 2018Article
- Article
- Genetic Analyses of a Three Generation Family Segregating Hirschsprung Disease and Iris Heterochromia.PloS one · 2013Article
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in EDNRB gene have been reported to cause Waardenburg-Shah syndrome (WS4) in humans. We investigated 17 patients with WS4 for identification of mutations in EDNRB gene using PCR and direct sequencing technique. Four genomic mutations were detected in four patients; a G to C transversion in codon 335 (S335C) in exon 5 and a transition of T to C in codon (S361L) in exon 5, a transition of A to G in codon 277 (L277L) in exon 4, a non coding transversion of T to A at -30 nucleotide position of exon 5. None of these mutations were found in controls. One of the patients harbored two novel mutations (S335C, S361L) in exon 5 and one in Intronic region (-30exon5 A>G). All of the mutations were homozygous and novel except the mutation observed in exon 4. In this study, we have identified 3 novel mutations in EDNRB gene associated with WS4 in Pakistani patients.
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