Molecular Genetics and Epigenetics of Ankyloglossia

摘要

Ankyloglossia is an autosomal dominant condition with in complete penetrence, haracterized by frenulum lingual hypertrophy that produces a thicker and shorter tongue, which may cause significant problems with breastfeeding. It also causes speech and oral motor problems. The prevalence of ankyloglossia is approximately 4% in babies, and tongue tie is estimated to affect 489,343 newborns, representing 10% of the Indonesian newborn population of 4,893,435.1 For reasons unknown, this condition is seen more often in males than in females. Ankyloglossia may be isolated or accompanied by cleft palate (CPX). The presentation of this condition is associated with nucleotide base substitution mutations in the TBX22 gene and the G-protein-coupled receptor Lgr5 and can be related to epigenetic modification, including DNA methylation and SUMOylation, which is one kind of histone modification.