Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases
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Auriculocondylar syndrome (ACS) is a rare craniofacial disorder characterized by mandibular hypoplasia and an auricular defect at the junction between the lobe and helix, known as a “Question Mark Ear” (QME). Several additional features, originating from the first and second branchial arches and other tissues, have also been reported. ACS is genetically heterogeneous with autosomal dominant and recessive modes of inheritance. The mutations identified to date are presumed to dysregulate the endothelin 1 signaling pathway. Here we describe 14 novel cases and reassess 25 published cases of ACS through a questionnaire for systematic data collection. All patients harbor mutation(s) in PLCB4, GNAI3, or EDN1. This series of patients contributes to the characterization of additional features occasionally associated with ACS such as respiratory, costal, neurodevelopmental, and genital anomalies, and provides management and monitoring recommendations.
Originalsprog | Engelsk |
---|---|
Tidsskrift | Human Mutation |
Vol/bind | 43 |
Udgave nummer | 5 |
Sider (fra-til) | 582-594 |
ISSN | 1059-7794 |
DOI | |
Status | Udgivet - 2022 |
Bibliografisk note
Funding Information:
We thank the patients and their physicians for their participation in the study. This study was supported by a Université Sorbonne Paris‐Cité Pôle de recherche et d'enseignement supérieur grant (project number SPC/JFG/2013‐031), the Agence Nationale de la Recherche (CranioRespiro), an E‐Rare CRANIRARE grant, MSD‐Avenir (project Devo‐Decode) and AXA (project Tête et Cœur).
Funding Information:
We thank the patients and their physicians for their participation in the study. This study was supported by a Université Sorbonne Paris-Cité Pôle de recherche et d'enseignement supérieur grant (project number SPC/JFG/2013-031), the Agence Nationale de la Recherche (CranioRespiro), an E-Rare CRANIRARE grant, MSD-Avenir (project Devo-Decode) and AXA (project Tête et Cœur).
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