Article (Scientific journals)
Le syndrome de Hutchinson-Gilford (progeria): analyse clinique et moleculaire chez une patiente d'origine africaine
Mutesa, Léon; Pierquin, Geneviève; Cwiny-Ay, N. et al.
2007In Revue Médicale de Liège, 62 (3), p. 155-8
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Abstract :
[en] 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.
Disciplines :
Genetics & genetic processes
Author, co-author :
Mutesa, Léon
Pierquin, Geneviève ;  Centre Hospitalier Universitaire de Liège - CHU > Génétique
Cwiny-Ay, N.
Buzizi, P.
Bours, Vincent ;  Université de Liège - ULiège > Département des sciences biomédicales et précliniques > Génétique générale et humaine
Language :
French
Title :
Le syndrome de Hutchinson-Gilford (progeria): analyse clinique et moleculaire chez une patiente d'origine africaine
Alternative titles :
[en] Hutchinson-Gilford Progeria Syndrome: Clinical and Molecular Analysis in an African Patient
Publication date :
March 2007
Journal title :
Revue Médicale de Liège
ISSN :
0370-629X
eISSN :
2566-1566
Publisher :
Université de Liège. Revue Médicale de Liège, Liège, Belgium
Volume :
62
Issue :
3
Pages :
155-8
Peer reviewed :
Peer reviewed
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