Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears.

doi:10.1016/j.ajhg.2013.10.023

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Article

Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears.

American journal of human genetics - 5 Dec 2013

Gordon Christopher T, Petit Florence, Kroisel Peter M, Jakobsen Linda, Zechi-Ceide Roseli Maria, Oufadem Myriam, Bole-Feysot Christine, Pruvost Solenn, Masson Cécile, Tores Frédéric, Hieu Thierry, Nitschké Patrick, Lindholm Pernille, Pellerin Philippe, Guion-Almeida Maria Leine, Kokitsu-Nakata Nancy Mizue, Vendramini-Pittoli Siulan, Munnich Arnold, Lyonnet Stanislas, Holder-Espinasse Muriel, Amiel Jeanne

Abstract excerpt

Auriculocondylar syndrome (ACS) is a rare craniofacial disorder with mandibular hypoplasia and question-mark ears (QMEs) as major features. QMEs, consisting of a specific defect at the lobe-helix junction, can also occur as an isolated anomaly. Studies in animal models have indicated the essential role of endothelin 1 (EDN1) signaling through the endothelin receptor type A (EDNRA) in patterning the mandibular...

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Identifiers

PMID: 24268655
DOI: 10.1016/j.ajhg.2013.10.023
PMCID: PMC3853412

Genes

EDN1
EDNRA
GNAI3
PLCB4

Provenance

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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