TY - JOUR
T1 - Somatic and gonadal mosaicism in Hutchinson-Gilford progeria
AU - Wuyts, Wim
AU - Biervliet, Martine
AU - Reyniers, Edwin
AU - D'Apice, Maria Rosaria
AU - Novelli, Giuseppe
AU - Storm, Katrien
PY - 2005/5/15
Y1 - 2005/5/15
N2 - 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.
AB - 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.
KW - Hutchinson-Gilford progeria
KW - LMNA
KW - Mosaicism
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U2 - 10.1002/ajmg.a.30663
DO - 10.1002/ajmg.a.30663
M3 - Article
C2 - 15793835
AN - SCOPUS:18244376146
SN - 1552-4825
VL - 135 A
SP - 66
EP - 68
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 1
ER -