Further delineation of Auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases. - Université de Lille Accéder directement au contenu
Article Dans Une Revue Hum Mutat. Année : 2022

Further delineation of Auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases.

1 Imagine - U1163 - Imagine - Institut des maladies génétiques (IHU)
2 Hôpital Necker - Enfants Malades [AP-HP]
3 USP - Universidade de São Paulo = University of São Paulo
4 Dokkyo Medical University
5 Ghent University Hospital
6 UGENT - Universiteit Gent = Ghent University
7 HKU - The University of Hong Kong
8 Cliniques Universitaires Saint-Luc [Bruxelles]
9 UCL - Université Catholique de Louvain = Catholic University of Louvain
10 CHU Dijon
11 CHU Pitié-Salpêtrière [AP-HP]
12 SU - Sorbonne Université
13 CHRU Lille - Centre Hospitalier Régional Universitaire [CHU Lille]
14 Clinique de Génétique médicale Guy Fontaine [CHRU LIlle]
15 University of Toronto
16 SickKids - The Hospital for sick children [Toronto]
17 Copenhagen University Hospital
18 UGA - Université Grenoble Alpes
19 RBWH - Royal Brisbane & Women's Hospital [Brisbane, Australia]
20 UQ [All campuses : Brisbane, Dutton Park Gatton, Herston, St Lucia and other locations] - The University of Queensland
21 UMCG - University Medical Center Groningen [Groningen]
22 University of Groningen [Groningen]
23 FPUAG - Fondazione Policlinico Universitario A. Gemelli [Rome]
24 Medical University of Graz
25 MCRI - Murdoch Children's Research Institute
26 University of Melbourne
27 Newcastle Upon Tyne Hospitals NHS Foundation Trust
28 UMCU - University Medical Center [Utrecht]
29 Schneider Children’s Medical Center of Israel [Petah Tikva]
30 Raphael Recanati Genetics Institute [Petah Tikva]
31 TAU - Tel Aviv University
32 SQU - Sultan Qaboos University
33 Hôpital Jean Verdier [AP-HP]

Résumé

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.

Dates et versions

hal-04616696 , version 1 (19-06-2024)

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Citer

N. Vegas, Z. Demir, Christopher T. Gordon, S. Breton, V. Romanelli Tavares, et al.. Further delineation of Auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases.. Hum Mutat., 2022, Hum Mutat, 43 (5), pp.582-594. ⟨10.1002/humu.24349⟩. ⟨hal-04616696⟩
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