Effect of a splice site mutation in LDLR gene and two variations in PCSK9 gene in Tunisian families with familial hypercholesterolaemia.
Ann Clin Biochem
; 48(Pt 1): 83-6, 2011 Jan.
Article
en En
| MEDLINE
| ID: mdl-21115573
Autosomal dominant hypercholesterolaemia (ADH) is due to defects in the LDL receptor gene (LDLR), in the apolipoprotein B-100 gene (APOB) or in the proprotein convertase subtilisin/kexin type 9 gene (PCSK9). The aim of this study was to identify and to characterize mutations at the origin of ADH in two Tunisian families. We found three genomic variations: (1) c.1845 + 1G > A, a splice site mutation in the LDLR gene and (2) two variations in the PCSK9 gene (p.Phe515Leu and p.Gly670Glu) that were both reported to be associated with high LDL-C levels. These results enlarge the spectrum of ADH-causative LDLR and PCSK9 variations in Tunisia. Our observations indicate that missense variations in the PCSK9 gene do not influence the clinical phenotype of ADH patients carrying a mutation in the LDLR gene.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Receptores de LDL
/
Serina Endopeptidasas
/
Empalme del ARN
/
Hiperlipoproteinemia Tipo II
Tipo de estudio:
Prognostic_studies
Límite:
Humans
País/Región como asunto:
Africa
Idioma:
En
Revista:
Ann Clin Biochem
Año:
2011
Tipo del documento:
Article
País de afiliación:
Túnez
Pais de publicación:
Reino Unido