Application of oligonucleotide array CGH in the detection of a large intragenic deletion in POLG associated with Alpers Syndrome.
Mitochondrion
; 11(1): 104-7, 2011 Jan.
Article
em En
| MEDLINE
| ID: mdl-20708716
ABSTRACT
Mutations in the polymerase γ (POLG) gene are among the most common causes of mitochondrial disease and more than 160 POLG mutations have been reported. However, a large proportion of patients suspected of having POLG mutations only have one (heterozygous) definitive pathogenic mutation identified. Using oligonucleotide array CGH, we identified a compound heterozygous large intragenic deletion encompassing exons 15-21 of this gene in a child with Alpers syndrome due to mtDNA depletion. This is the first large POLG deletion reported and the findings show the clinical utility of using array CGH in cases where a single heterozygous mutation has been identified in POLG.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Esclerose Cerebral Difusa de Schilder
/
Análise de Sequência com Séries de Oligonucleotídeos
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DNA Polimerase Dirigida por DNA
/
Hibridização Genômica Comparativa
/
Mutação
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
/
Risk_factors_studies
Limite:
Child, preschool
/
Female
/
Humans
Idioma:
En
Revista:
Mitochondrion
Ano de publicação:
2011
Tipo de documento:
Article
País de afiliação:
Austrália