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A familial PLCB4 mutation causing auriculocondylar syndrome 2 with variable severity.

European journal of medical genetics - 1 Jun 2020

Nabil Amira, El Shafei Sahar, El Shakankiri Nihal M, Habib Ahmed, Morsy Heba, Maddirevula Sateesh, Alkuraya Fowzan S

Abstract excerpt

Auriculocondylar syndrome (ARCND, MIM #614669, #602483, and #615706); also known as ''question-mark ear syndrome'' or ''dysgnathia complex'', is a rare craniofacial malformation of first and second branchial arches with a prevalence of <1/1,000,000. It is characterized by a distinctive auricular malformation (question mark ear (QME)) and highly variable mandibular anomalies. Variants found in PLCB4, GNAI3, and in...

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Phospholipase C beta

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PMID: 32201334
DOI: 10.1016/j.ejmg.2020.103917

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