Homozygous LMNA mutation R527C in atypical Hutchinson–Gilford progeria syndrome: evidence for autosomal recessive inheritance
Article first published online: 6 MAY 2009
© 2009 Xuefan Gu/Journal Compilation © 2009 Foundation Acta Pædiatrica
Volume 98, Issue 8, pages 1365–1368, August 2009
How to Cite
Liang, L., Zhang, H. and Gu, X. (2009), Homozygous LMNA mutation R527C in atypical Hutchinson–Gilford progeria syndrome: evidence for autosomal recessive inheritance. Acta Paediatrica, 98: 1365–1368. doi: 10.1111/j.1651-2227.2009.01324.x
- Issue published online: 1 JUL 2009
- Article first published online: 6 MAY 2009
- Received 16 December 2008; revised 20 March 2009; accepted 25 March 2009.
- Familial occurrence;
- Inherited metabolic disorder;
- Mutation analysis;
- Skeletal dysplasia
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.