Mandibuloacral
Mandibuloacral
Dysplasia Mutation Detection in Three Egyptian Families: A Report of a Novel Mutation
Khalda Amr1, Mostafa Mostafa2 and Ghada El-Kamah3
1Dept. of Molecular Genetics, Human Genetics & Genome Research Division,
National Research Center (NRC), Cairo, Egypt.
2 Dept. of Oro-Dental Genetics, Division of Oro-Dental Research, NRC, Cairo,
Egypt.
3Dept. of Clinical Genetics, Human Genetics & Genome Research Division,
NRC, Cairo, Egypt.
[email protected]
Abstract: 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.
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Key word: Mandibuloacral dysplasia MAD, LMNA gene, mutation. Full Text 137
