Somatic and gonadal mosaicism in Hutchinson-Gilford progeria.
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.
Wuyts
Wim
W
Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, 2610 Antwerp, Belgium. wim.wuyts@ua.ac.be
Biervliet
Martine
M
Reyniers
Edwin
E
D'Apice
Maria Rosaria
MR
Novelli
Giuseppe
G
Storm
Katrien
K
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
D034904:Lamin Type A