Clefting disorders

Gene: GNAI3

Red List (low evidence)

In a literature review of 14 patients, Storm et al. (2005) reported the most common clinical signs of (Auriculocondylar syndrome) ARCND: abnormalities of the TMJ/condyle (100%), ear constriction (96.8%), micrognathia (71%), abnormal palate (62.5%), prominent cheeks (57.1%), microstomia (51.9%), glossoptosis (45.5%), respiratory distress (36.4%), stenotic ear canals (30%), and hearing loss (21%).

Rieder et al. (2012) identified the same heterozygous missense variant (p.Gly40Arg) in the GNAI3 gene in a mother and daughter with auriculocondylar syndrome, and in another unrelated ARCND proband. The unrelated proband inherited the mutation from her unaffected father, demonstrating incomplete penetrance. The mutation was not found in 10,758 control chromosomes.Not clear from paper if they had clefting.

Created: 1 Feb 2021, 1:22 a.m. | Last Modified: 1 Feb 2021, 1:22 a.m.

Panel Version: 0.41

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Auriculocondylar syndrome 1, OMIM #602483

Publications

• PMID: 22560091, 16114046