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Homozygous LMNA mutation R527C in atypical Hutchinson–Gilford progeria syndrome: evidence for autosomal recessive inheritance
Author(s) -
Liang Lili,
Zhang Huiwen,
Gu Xuefan
Publication year - 2009
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.2009.01324.x
Subject(s) - lmna , progeria , medicine , genetics , mutation , biology , gene
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.