Somatic and gonadal mosaicism in Hutchinson-Gilford progeria

Wim Wuyts, Martine Biervliet, Edwin Reyniers, Maria Rosaria D'Apice, Giuseppe Novelli, Katrien Storm

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)66-68
Number of pages3
JournalAmerican Journal of Medical Genetics
Volume135 A
Issue number1
DOIs
Publication statusPublished - May 15 2005

Keywords

  • Hutchinson-Gilford progeria
  • LMNA
  • Mosaicism

ASJC Scopus subject areas

  • Genetics(clinical)

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