AIM: To describe two Chinese siblings of atypical Hutchinson-Gilford progeria 
syndrome (HGPS), with genetic diagnosis and special clinical manifestation.
METHODS: We screened the LMNA gene in four members of a consanguineous family, 
in which two children were suffering from atypical HGPS. Besides general HGPS 
features, such as growth retardation and characteristic appearance, special 
clinical phenotypes including disorders of digestive system and severe skeletal 
damages were observed.
RESULTS: Homozygous mutation 1579C>T, which predicts R527C, was identified in 
the exon 9 of LMNA among the affected siblings. Heterozygous carrier status 
1579C>T was detected in both of the asymptomatic parents.
CONCLUSION: Homozygous mutation R527C in LMNA yields atypical HGPS, and it 
suggests an autosomal recessive inheritance in this family.