Homozygous LMNA mutation R527C in atypical Hutchinson-Gilford progeria syndrome: evidence for autosomal recessive inheritance.
OBJECTIVE
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.


CONCLUSIONS
Homozygous mutation R527C in LMNA yields atypical HGPS, and it suggests an autosomal recessive inheritance in this family.
Department of Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai Institute for Pediatric Research, Shanghai 200092, China.
Lili
L
Liang
Huiwen
H
Zhang
Xuefan
X
Gu
D044466:Asian People / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D006801:Humans; D034904:Lamin Type A / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense; D010641:Phenotype; D011371:Progeria / Q000235:genetics*; D035781:Siblings
D034904:Lamin Type A