title: Somatic and gonadal mosaicism in Hutchinson-Gilford progeria.
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.
authors.affiliation: Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Antwerp, Belgium. wim.wuyts@ua.ac.be
authors.forename: Wim
authors.initials: W
authors.lastname: Wuyts
authors.forename: Martine
authors.initials: M
authors.lastname: Biervliet
authors.forename: Edwin
authors.initials: E
authors.lastname: Reyniers
authors.forename: Maria Rosaria
authors.initials: MR
authors.lastname: D'Apice
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Novelli
authors.forename: Katrien
authors.initials: K
authors.lastname: Storm
mesh_terms: D001483:Base Sequence; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D034904:Lamin Type A / Q000235:genetics*; D008297:Male; D009030:Mosaicism; D010375:Pedigree; D017354:Point Mutation; D011371:Progeria / Q000235:genetics* / Q000473:pathology
chemical_list: D034904:Lamin Type A