Article
Auriculocondylar syndrome 2 results from the dominant-negative action of PLCB4 variants.
Disease models & mechanisms - 1 Apr 2022
Kanai Stanley M, Heffner Caleb, Cox Timothy C, Cunningham Michael L, Perez Francisco A, Bauer Aaron M, Reigan Philip, Carter Cristan, Murray Stephen A, Clouthier David E
Abstract excerpt
Auriculocondylar syndrome 2 (ARCND2) is a rare autosomal dominant craniofacial malformation syndrome linked to multiple genetic variants in the coding sequence of phospholipase C β4 (PLCB4). PLCB4 is a direct signaling effector of the endothelin receptor type A (EDNRA)-Gq/11 pathway, which establishes the identity of neural crest cells (NCCs) that form lower jaw and middle ear structures. However, the functional...
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