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Article

A 22q13.1 duplication in mosaicism including SOX10.

American journal of medical genetics. Part A - 1 Dec 2023

Bertani-Torres William, Serey-Gaut Margaux, de Oliveira Judite, Bole Christine, Parisot Mélanie, Nistschké Patrick, Maurin Marie-Laure, Lapierre Jean-Michel, Loundon Natalie, Belhous Kahina, Bondurand Nadège, Marlin Sandrine, Pingault Véronique

Abstract excerpt

Waardenburg syndrome (WS) is characterized by the association of sensorineural hearing loss and pigmentation abnormalities. Among the four types, WS Type 2 (WS2) is the only one without a remarkable distinguishing feature. Here, we report a patient initially diagnosed with WS2 who exhibits a 446 kb mosaic duplication in chromosome 22q13.1, encompassing SOX10, and detected using whole genome sequencing in a trio....

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Source

Identifiers

PMID: 37533297
DOI: 10.1002/ajmg.a.63362

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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