Case Report: A Novel Splice-Site Mutation of MTX2 Gene Caused Mandibuloacral Dysplasia Progeroid Syndrome: The First Report from China and Literature Review

This case report documents the first instance of mandibuloacral dysplasia progeroid syndrome (MADAM) caused by a novel splice-site mutation (c.378+1G>A) in the MTX2 gene in a Chinese patient. The 2-year-4-month-old girl exhibited severe symptoms including generalized lipodystrophy, skeletal malformations, and recurrent infections. Genetic analysis revealed a homozygous mutation leading to a truncated protein, contributing to the disease's severe phenotype. The study expands the known spectrum of MTX2 mutations and provides a comprehensive review of progeroid syndromes in the Chinese population, emphasizing the importance of early genetic testing for accurate diagnosis and effective treatment planning.