A familial PLCB4 mutation causing auriculocondylar syndrome 2 with variable severity |
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Affiliation: | 1. Department of Paediatrics, University Malaya Medical Center, Kuala Lumpur, Malaysia;2. University Malaya Paediatric and Child Health Research Group, University Malaya Medical Center, Kuala Lumpur, Malaysia;3. Department of Biomedical Science, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia |
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Abstract: | 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 EDN1 genes are responsible for >90% of tested ARCND patients. Whole exome sequencing in a multigenerational Egyptian kindred with high intrafamilial variability revealed a known heterozygous missense variant in PLCB4 (NM_000933.3:c.1862G>A:p.(Arg621His)). This report increases the number of molecularly characterized ARCND patients to 29 and emphasizes the highly variable clinical presentation within families. |
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Keywords: | ARCND Familial Variability Mandibular to maxillary transformation |
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