[Hutchinson-Gilford progeria syndrome: clinical and molecular analysis in an African patient].
Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare genetic disease characterized by an early onset of several clinical features including premature ageing in children. Approximately 80% of HGPS cases are caused by a de novo single-base pair substitution c.1824 C>T (GGC > GGT, p.Gly608Gly) within the exon 11 of the LMNA gene which codes for lamins A and C proteins. This mutation creates an abnormal splice donor site, leading to the formation of a truncated lamin A protein. Only a very few cases of African patients with HGPS have been reported, but none of them has been characterized at the molecular level. We report here a 12 year-old-girl African patient with HGPS, in whom the p.Gly608Gly heterozygous disease-causing mutation was found.
Mutesa
L
L
CHU Sart Tilman, Liège, Belgique.
Pierquin
G
G
Cwiny-Ay
N
N
Buzizi
P
P
Bours
V
V
D000349:Africa; D000375:Aging / Q000235:genetics; D002648:Child; D002853:Chromatography, Liquid; D005091:Exons; D005260:Female; D005998:Glycine; D006801:Humans; D034904:Lamin Type A / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011371:Progeria / Q000175:diagnosis / Q000235:genetics*
C494847:LMNA protein, human; D034904:Lamin Type A; D005998:Glycine