Point Mutations in Muscle Segment Homeobox 1 (MSX1) Gene in an Individual with Mandibular Retrognathia: A Case Report

Abstract

Malocclusion is an orofacial anomaly that manifests in the form of misaligned dental arches. Mandibular retrognathia is a type of malocclusion, characterised by defective mandibular bone growth. Muscle Segment Homeobox (MSX) gene family, plays an essential role during embryonic development by coordinating processes that decide the patterning and morphogenesis of tissues. Expression of MSX1 and MSX2 genes in the maxilla, mandible and the mesenchymal cells of cephalic neural crest strongly suggest their role in craniofacial development. Here, point mutations (T8I, P11S and A68V) in the coding region of MSX1 gene in a 20-year-old male patient with severe mandibular retrognathia was reported. To date, there has been no report on the association of MSXgenes with mandibular anomalies. Evaluating, the significance of these novel mutations through functional studies in animal models will lead to a better understanding of the role of MSX genes in mandibular morphogenesis.