Article
A homozygous missense variant in the PLCB4 gene causes severe phenotype of auriculocondylar syndrome type 2.
American journal of medical genetics. Part A - 1 Nov 2023
El Fizazi Khawla, Bouramtane Abdelhamid, Abbassi Meriame, El Asri Yasser Ali, Askander Omar, El Fahime Mustapha, Ouldim Karim, Ridal Mohammed, Bouguenouch Laila
Abstract excerpt
Auriculocondylar syndrome (ARCND) is a rare craniofacial birth defect characterized by malformations in the mandible and external ear (Question Mark Ear). Genetically, three distinct subtypes of ARCND (ARCND1, ARCND2, and ARCND3) have been identified. ARCND2 is linked to pathogenic variants in the PLCB4 gene (phospholipase C β4). PLCB4 is a key effector of the EDN1-EDNRA pathway involved in craniofacial...
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