Lesch-Nyhan disease in two families from Chiloé Island with mutations in the HPRT1 gene.
Nucleosides Nucleotides Nucleic Acids
; 36(7): 452-462, 2017 Jul 03.
Article
em En
| MEDLINE
| ID: mdl-28524722
Lesch-Nyhan disease (LND) is a rare X-linked inherited neurogenetic disorder of purine metabolism in which the enzyme, hypoxanthine-guanine phosphoribosyltransferase (HGprt) is defective. The authors report two independent point mutations leading to splicing errors: IVS 2 +1G>A, c.134 +1G>A, and IVS 3 +1G>A, c.318 +1G>A in the hypoxanthine-phosphoribosyltransferase1 (HPRT1) gene which result in exclusion of exon 2 and exon 3 respectively, in the HGprt enzyme protein from different members of two Chiloé Island families. Molecular analysis has revealed the heterogeneity of genetic mutation of the HPRT1 gene responsible for the HGprt deficiency. It allows fast, accurate carrier detection and genetic counseling.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Linhagem
/
Ilhas
/
Hipoxantina Fosforribosiltransferase
/
Síndrome de Lesch-Nyhan
/
Mutação
Limite:
Adolescent
/
Adult
/
Female
/
Humans
/
Male
País/Região como assunto:
America do sul
/
Chile
Idioma:
En
Revista:
Nucleosides Nucleotides Nucleic Acids
Assunto da revista:
BIOQUIMICA
Ano de publicação:
2017
Tipo de documento:
Article
País de afiliação:
Estados Unidos
País de publicação:
Estados Unidos