Identification of two novel mutations in the ATP7B gene that cause Wilson's disease.
World J Pediatr
; 13(4): 387-391, 2017 Aug.
Article
em En
| MEDLINE
| ID: mdl-28856630
ABSTRACT
BACKGROUND:
Wilson's disease is an autosomal recessive disorder characterized by liver disease and/or neurologic deficits due to copper accumulation and is caused by pathogenic mutations in the ATP7B gene. DATA SOURCES Two unrelated Chinese patients born to nonconsanguineous parents who were diagnosed with earlyonset Wilson's disease. DNA sequencing and bioinformation analysis were conducted.RESULTS:
We have identified four mutations in two family trios, of which two were novel, namely, c. 3028A>G (p. K1010E) and c.3992T>G (p.Y1331X), in each patient.CONCLUSIONS:
Gene testing is playing an important role in diagnosis of Wilson's disease. The early-onset of Wilson's disease is apparently not associated with P-ATPase domain in the ATP7B protein. Our findings further widen the spectrum of mutations involving the ATP7B gene.Palavras-chave
Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Análise Mutacional de DNA
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ATPases Transportadoras de Cobre
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Degeneração Hepatolenticular
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Mutação
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Child
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Humans
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Male
Idioma:
En
Ano de publicação:
2017
Tipo de documento:
Article