Mutation of GJB2 in a Chinese patient with keratitis-ichthyosis-deafness syndrome and brain malformation.
Clin Exp Dermatol
; 34(3): 309-13, 2009 Apr.
Article
em En
| MEDLINE
| ID: mdl-19175781
ABSTRACT
OBJECTIVE:
Keratitis-ichthyosis-deafness syndrome (KID) is a rare congenital disorder. Mutations in the GJB2 gene have recently been identified as the causative mutations of KID.AIM:
To define the GJB2 mutation in a Chinese patient with KID and brain malformation.METHODS:
Genomic DNA was extracted from peripheral blood and used to amplify the GJB2 gene. Direct sequencing and endonuclease digestion were used for mutation analysis.RESULTS:
We identified a heterozygous missense mutation (D50N) in the GJB2 gene in this patient.CONCLUSIONS:
These results indicate that KID syndrome in this patient was caused by a dominant mutation of GJB2.
Texto completo:
1
Bases de dados:
MEDLINE
Assunto principal:
Eritrodermia Ictiosiforme Congênita
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Conexinas
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Mutação de Sentido Incorreto
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Perda Auditiva Neurossensorial
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Ceratite
Tipo de estudo:
Prognostic_studies
Limite:
Adolescent
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Female
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Humans
Idioma:
En
Revista:
Clin Exp Dermatol
Ano de publicação:
2009
Tipo de documento:
Article
País de afiliação:
China