Editorial: Contemporary Views on the Genetics of Dental and Craniofacial Anomalies

Abstract

GJA1 (ODDD) A Report” presented a detailed case report of a patient with clinical features of both HSS and ODDD and confirmed its definitive diagnosis using whole-exome sequencing (WES) and Sanger sequencing (Jimenez-Armijo et al.). Proband presented with obstructive sleep apnea, hypotrichosis, micropthalmia, hypertelorism, low convex nasal ridge, mandibular retrognathia, brachydactyly and fifth finger clinodactyly, and multiple dental anomalies including brittle and brownish-yellow color deciduous teeth, thin and conoid deciduous canines, short roots, large pulps and history of caries, abscesses and multiple extractions of teeth. Although clinical features were previously associated with HSS, exome sequencing revealed novel homozygous missense variant in the Gap Junction protein Alpha ( GJA) 1 gene that has been identified as causative gene for ODDD. The variant (c.561C > G p.Cys187Trp) affected the second extracellular loop of the CX43 protein and this deleterious variant was classified as likely pathogenic (Jimenez-Armijo et al.). The study supports the possibility that autosomal recessively inherited HSS/ODDD may be a single syndrome with overlapping clinical features caused by homozygous variants in specific location of the GJA1 gene sequence. It also demonstrates how problematic phenotype-based diagnosis can be especially in cases like HSS where the molecular basis is unknown and therefore highlights the benefits of genetic screening in helping with early disease diagnosis that effective preventative measures that are for instance