SEARCH

SEARCH BY CITATION

Keywords:

  • Familial occurrence;
  • Inherited metabolic disorder;
  • Mutation analysis;
  • Skeletal dysplasia

Abstract

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.