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Genetic insights into Tietz albinism-deafness syndrome: A new dominant-negative mutation in MITF.

Pigment cell & melanoma research - 1 Jul 2024

Yamamoto Kohei, Okamura Ken, Wakamatsu Kazumasa, Ito Shosuke, Akabane Kozue, Arai Yosuke, Kawaguchi Junnosuke, Hozumi Yutaka, Suzuki Tamio

Abstract excerpt

Tietz albinism-deafness syndrome (TADS) is a rare and severe manifestation of Waardenburg syndrome that is primarily linked to mutations in MITF. In this report, we present a case of TADS resulting from a novel c.637G>C mutation in MITF (p.Glu213Gln; GenBank Accession number: NM_000248). A 3-year-old girl presented with congenital generalized hypopigmentation of the hair, skin, and irides along with complete...

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PMID: 38439523
DOI: 10.1111/pcmr.13166

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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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