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New mutations in the ATM gene and clinical data of 25 AT patients.
Neurogenetics ; 12(4): 273-82, 2011 Nov.
Article em En | MEDLINE | ID: mdl-21965147
ABSTRACT
Ataxia telangiectasia (AT) is an autosomal recessive disorder characterized by cerebellar degeneration, immunodeficiency, oculocutaneous telangiectasias, chromosomal instability, radiosensitivity, and cancer predisposition. The gene mutated in the patients, ATM, encodes a member of the phosphatidylinositol 3-kinase family proteins. The ATM protein has a key role in the cellular response to DNA damage. Truncating and splice site mutations in ATM have been found in most patients with the classical AT phenotype. Here we report of our extensive ATM mutation screening on 25 AT patients from 19 families of different ethnic origin. Previously unknown mutations were identified in six patients including a new homozygous missense mutation, c.8110T>C (p.Cys2704Arg), in a severely affected patient. Comprehensive clinical data are presented for all patients described here along with data on ATM function generated by analysis of cell lines established from a subset of the patients.
Assuntos

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ataxia Telangiectasia / Proteínas Serina-Treonina Quinases / Proteínas de Ciclo Celular / Proteínas Supressoras de Tumor / Proteínas de Ligação a DNA / Mutação Idioma: En Ano de publicação: 2011 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ataxia Telangiectasia / Proteínas Serina-Treonina Quinases / Proteínas de Ciclo Celular / Proteínas Supressoras de Tumor / Proteínas de Ligação a DNA / Mutação Idioma: En Ano de publicação: 2011 Tipo de documento: Article