SMU Medical Journal

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Mandibuloacral Dysplasia with Type A Lipodystrophy ( MADA) in A 16 year-old Iranian Girl


Affiliations
1 Welfare Organization,, Iran, Islamic Republic of
2 Molecular Genetic Diagnosis Lab, Special Medical Center, Tehran, Iran, Islamic Republic of
 

MADA is a rare syndrome characterized by premature aged appearance, and variety of abnormalities involving bone development, skin coloring (pigmentation), and fat distribution. The disease resulting from mutation of LMNA gene. Here we report a 16 year-old girl with joint deformities especially in the fingers&loss of fatty tissue under the skin (progeroid feature). Based on these finding MADA was suspected and LMNA gene sequencing was performed revealing a homozygous mutation in R527H.

Keywords

LMNA , Mandibulo Acral Dysplasia, Lipodystrophy, R527H.
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  • Mandibuloacral Dysplasia with Type A Lipodystrophy ( MADA) in A 16 year-old Iranian Girl

Abstract Views: 232  |  PDF Views: 134

Authors

Afsaneh Sahebalzamani
Welfare Organization,, Iran, Islamic Republic of
Omid Aryani
Molecular Genetic Diagnosis Lab, Special Medical Center, Tehran, Iran, Islamic Republic of

Abstract


MADA is a rare syndrome characterized by premature aged appearance, and variety of abnormalities involving bone development, skin coloring (pigmentation), and fat distribution. The disease resulting from mutation of LMNA gene. Here we report a 16 year-old girl with joint deformities especially in the fingers&loss of fatty tissue under the skin (progeroid feature). Based on these finding MADA was suspected and LMNA gene sequencing was performed revealing a homozygous mutation in R527H.

Keywords


LMNA , Mandibulo Acral Dysplasia, Lipodystrophy, R527H.