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Article

A novel de novo mutation in MYT1, the unique OAVS gene identified so far.

European journal of human genetics : EJHG - 1 Sept 2017

Berenguer Marie, Tingaud-Sequeira Angele, Colovati Mileny, Melaragno Maria I, Bragagnolo Silvia, Perez Ana B A, Arveiler Benoit, Lacombe Didier, Rooryck Caroline

Abstract excerpt

Oculo-auriculo-vertebral spectrum (OAVS) is a developmental disorder characterized by hemifacial microsomia associated with ear, eyes and vertebrae malformations showing highly variable expressivity. Recently, MYT1, encoding the myelin transcription factor 1, was reported as the first gene involved in OAVS, within the retinoic acid (RA) pathway. Fifty-seven OAVS patients originating from Brazil were screened for...

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Source

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Identifiers

PMID: 28612832
DOI: 10.1038/ejhg.2017.101
PMCID: PMC5558169

Genes

MYT1
RARA
RARB
RARG

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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