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. (c) 2005 Wiley-Liss, Inc.
Wuyts, W., Biervliet, M., Reyniers, E., D'Apice, M., Novelli, G., Storm, K. (2005). Somatic and gonadal mosaicism in Hutchinson-Gilford progeria. AMERICAN JOURNAL OF MEDICAL GENETICS. PART A, 135A(1), 66-68 [10.1002/ajmg.a.30663].
Somatic and gonadal mosaicism in Hutchinson-Gilford progeria
NOVELLI, GIUSEPPE;
2005-01-01
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. (c) 2005 Wiley-Liss, Inc.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
