748 Segmental odonto-maxillary dysplasia is caused by mosaic variants in the gene encoding beta-actin

Segmental odontomaxillary dysplasia (SOD) is a rare sporadic disorder of unknown aetiology affecting the face, presenting at birth or in early childhood. Affected individuals can have progressive hypertrichosis, increased or decreased pigmentation, erythema, asymmetry, dental anomalies and commissural lip fissures. Here we present detailed phenotypic, histological and radiological data from a cohort of eight patients, and investigate the genetic basis of the disorder. We hypothesised that this condition could be due to a post-zygotic mutation in utero.
Source: Journal of Investigative Dermatology - Category: Dermatology Authors: Tags: Genetic Disease, Gene Regulation, and Gene Therapy Source Type: research