A Rare LMNA Missense Mutation Causing a Severe Phenotype of Mandibuloacral Dysplasia Type A: A Case Report

This case report identifies a rare LMNA gene mutation, c.1579C>T (p.R527C), associated with a severe form of mandibuloacral dysplasia type A (MADA) in a 6-year-old girl. The patient showed an earlier onset and more severe symptoms than typically seen in MADA, including subtotal alopecia, craniofacial deformities, generalized lipodystrophy, joint stiffness, and significant skeletal anomalies. The mutation was confirmed to be autosomal recessive, differing from previous reports of autosomal dominant inheritance. This is the sixth family reported with this mutation, highlighting its rarity and the need for further research to understand its full impact.