Orodental malformations associated with human MSX1 sequence variants.

Background: MSX1 sequence variants have been known to cause human tooth agenesis (TA) with or without orofacial clefts. However, their roles during the whole processes of tooth development are not fully understood. This study aimed to characterize a 4-membered family with TA carrying a novel MSX1 pathogenic variant and investigate the disease mechanism.

A novel mutation causing amelogenesis imperfecta and its expression in human dental tissues.

Background/purpose: Amelogenesis imperfecta (AI), an assemblage of genetic diseases with dental enamel malformations, is generally grouped into hypoplastic, hypomaturation, and hypocalcified types. This study aimed to identify the genetic etiology for a consanguineous Iranian family with autosomal recessive hypocalcified AI.

Materials And Methods: Dental defects were characterized, and whole exome analysis conducted to search for disease-causing mutations.