Mandibuloacral Dysplasia Mutation Detection in Three Egyptian Families: A Report of a Novel Mutation

Mandibuloacral dysplasia (MAD) is a rare autosomal recessive disorder characterized by mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of the cranial suture and joint contractures. Mutations in Lamin A/C have been reported in patients with MAD. Laminopathesies refer to many disorders caused by defects in the nuclear lamina associated proteins. Lamins are integral structural components of the nuclear lamina hypothesized to be involved in numerous cellular processes. LMNA gene maps to chromosome 1q21.2 and encodes lamin A and lamin C through alternative splicing. We investigated three consanguineous Egyptian families having severe MAD disorder. Subsequently, direct sequencing of the coding region of the LMNA gene in patients and their parents revealed the identification of two homozygous missense mutations that replace a conserved residue: Arginine 527, a novel R527L mutation in one patient and R527C mutation in the other two patients. [Khalda Amr, Mostafa Ibrahim and Ghada El-Kamah. Mandibuloacral Dysplasia Mutation Detection in Three Egyptian Families: A Report of a Novel Mutation. L Sci J 2012;9(1):940-944]. (ISSN: 1097-8135). http://www.lifesciencesite.com. 137