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Am J Med Genet A. 2005 May 15;135(1):66-8.

Somatic and gonadal mosaicism in Hutchinson-Gilford progeria.

Author information

1
Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Antwerp, Belgium. wim.wuyts@ua.ac.be

Abstract

We have studied a patient with Hutchinson-Gilford progeria (HGP). Sequence analysis of the LMNA gene demonstrated the presence of a c.1824 C > T (p.G608G) mutation, activating a cryptic splice donor site and leading to the formation of a truncated Lamin A protein. All molecularly characterized autosomal dominant HGP cases described so far result from de novo LMNA mutations, mostly originating on the paternal allele and are often linked with advanced paternal age. However, in our patient, the mutation was transmitted by the mother who showed somatic and germline mosaicism without HGP manifestations.

PMID:
15793835
DOI:
10.1002/ajmg.a.30663
[Indexed for MEDLINE]
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