Lesch-Nyhan disease in two families from Chiloé Island with mutations in the HPRT1 gene.

Nguyen, Khue Vu; Silva, Sebastian; Troncoso, Monica; Naviaux, Robert K; Nyhan, William L

Nguyen, Khue Vu; Silva, Sebastian; Troncoso, Monica; Naviaux, Robert K; Nyhan, William L.

Afiliação

Nguyen KV; a Department of Medicine, Biochemical Genetics and Metabolism, The Mitochondrial and Metabolic Disease Center, School of Medicine , University of California , San Diego , California , USA.
Silva S; b Department of Pediatrics , University of California, San Diego, School of Medicine , San Diego, La Jolla , California , USA.
Troncoso M; c Child Neurology Service, Hospital de Ancud , Chiloé Island , Chile.
Naviaux RK; d Child Neurology Service, Hospital San Borja Arriarán, Universidad de Chile , Santiago , Chile.
Nyhan WL; a Department of Medicine, Biochemical Genetics and Metabolism, The Mitochondrial and Metabolic Disease Center, School of Medicine , University of California , San Diego , California , USA.

Nucleosides Nucleotides Nucleic Acids ; 36(7): 452-462, 2017 Jul 03.

Article em En | MEDLINE | ID: mdl-28524722

RESUMO

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.

Assuntos

Hipoxantina Fosforribosiltransferase/genética; Ilhas; Síndrome de Lesch-Nyhan/enzimologia; Síndrome de Lesch-Nyhan/genética; Mutação; Linhagem; Adolescente; Adulto; Sequência de Bases; Chile; Éxons/genética; Feminino; Humanos; Masculino; Adulto Jovem

Palavras-chave

HGprt enzyme; HPRT1 gene; Lesch-Nyhan disease; PCR; epigenetics; epistasis; mutation; sequencing

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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

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