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Article

Frameshift variant in MITF gene in a large family with Waardenburg syndrome type II and a co-segregation of a C2orf74 variant.

PloS one - 1 Jan 2021

Albarry Maan Abdullah, Latif Muhammad, Alreheli Ahdab Qasem, Awadh Mohammed A, Almatrafi Ahmad M, Albalawi Alia M, Basit Sulman

Abstract excerpt

Waardenburg syndrome (WS) is a hereditary disorder affecting the auditory system and pigmentation of hair, eyes, and skin. Different variants of the disease exist with the involvement of mutation in six genes. The aim of the study is to identify the genetic defects underlying Waardenburg syndrome in a large family with multiple affected individuals. Here, in this study, we recruited a large family with eleven...

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Identifiers

PMID: 33571247
DOI: 10.1371/journal.pone.0246607
PMCID: PMC7877624

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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