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Article

Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness.

American journal of human genetics - 1 Dec 2016

George Aman, Zand Dina J, Hufnagel Robert B, Sharma Ruchi, Sergeev Yuri V, Legare Janet M, Rice Gregory M, Scott Schwoerer Jessica A, Rius Mariana, Tetri Laura, Gamm David M, Bharti Kapil, Brooks Brian P

Abstract excerpt

Human MITF is, by convention, called the "microphthalmia-associated transcription factor" because of previously published seminal mouse genetic studies; however, mutations in MITF have never been associated with microphthalmia in humans. Here, we describe a syndrome that we term COMMAD, characterized by coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness. COMMAD is associated with...

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Identifiers

PMID: 27889061
DOI: 10.1016/j.ajhg.2016.11.004
PMCID: PMC5142105

Genes

MITF

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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