A taxia-telangiectasia (A-T) is a multisystem autosomal recessive disorder, with an estimated frequency of 1/40 000-1/100 000 live births. The ataxia-telangiectasia mutated gene (ATM), located on chromosome 11q22-23, encodes a nuclear 370 kDa phosphoprotein, homologous to a family of phosphatidylinositol kinase related proteins involved in DNA damage response and cell cycle regulation. Classical A-T patients show progressive cerebellar degeneration with onset in childhood, oculocutaneous telangiectasia, variable immunodeficiency, recurrent sinopulmonary infections, and high levels of serum -fetoprotein, chromosomal instability, and predisposition to lymphoid malignancies. The majority of patients are compound heterozygotes for two truncating ATM mutations with no detectable ATM protein. The A-T phenotype, therefore, is most commonly the result of null alleles, although missense mutations can also destabilise the protein, with similar consequences.

A late onset variant of ataxia-telangiectasia with a compound heterozygous genotype, A8030G/7481insA.

SAVIOZZI, Silvia;SALUTO, Alessandro;FUNARO, Ada;PONZIO, Giorgio;MIGONE, Nicola;BRUSCO, Alfredo
2002-01-01

Abstract

A taxia-telangiectasia (A-T) is a multisystem autosomal recessive disorder, with an estimated frequency of 1/40 000-1/100 000 live births. The ataxia-telangiectasia mutated gene (ATM), located on chromosome 11q22-23, encodes a nuclear 370 kDa phosphoprotein, homologous to a family of phosphatidylinositol kinase related proteins involved in DNA damage response and cell cycle regulation. Classical A-T patients show progressive cerebellar degeneration with onset in childhood, oculocutaneous telangiectasia, variable immunodeficiency, recurrent sinopulmonary infections, and high levels of serum -fetoprotein, chromosomal instability, and predisposition to lymphoid malignancies. The majority of patients are compound heterozygotes for two truncating ATM mutations with no detectable ATM protein. The A-T phenotype, therefore, is most commonly the result of null alleles, although missense mutations can also destabilise the protein, with similar consequences.
2002
39
57
61
http://jmg.bmj.com/cgi/reprint/39/1/57
ATM; ataxia-telangiectasia variant; mutation analysis
Saviozzi, Silvia; Saluto, Alessandro; Taylor, Amr; Last, Jil; Trebini, F; Paradiso, Mc; Grosso, Enrico; Funaro, Ada; Ponzio, Giorgio; Migone, Nicola; Brusco, Alfredo
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2318/39454
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