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Revista chilena de pediatría

versión impresa ISSN 0370-4106

Resumen

RUIZ-BOTERO, Felipe  y  RODRIGUEZ-GUERRERO, Juliet T. New mutation in ATM gen in patient whith Ataxia Telangiectasia: Clinical case. Rev. chil. pediatr. [online]. 2017, vol.88, n.4, pp.524-528. ISSN 0370-4106.  http://dx.doi.org/10.4067/S0370-41062017000400013.

Introduction: The ataxia telangiectasia syndrome (AT) is a genetic disease with an autosomal recessive inheritance pattern, with multisystem involvement and a broad clinical spectrum. It is caused by the mutation of the ATM gene, causing reduction or absence of the ATM proteinkinase, altering processes in the cell cycle, DNA repair and apoptosis. The objective of this article is to report the case of a patient with ataxia telangiectasia syndrome, caused by a mutation not previously reported in the literature. Case report: A 14 year-old patient native to Colombia, with classic clinical and phenotypical manifestations of AT syndrome, which started at 6 years of age with pondostatural alteration, recurrent respiratory infections, oculocutaneus telangiectasias and progressive neurological disorder that included: regression in her psychomotor development, ataxia and oculomotor apraxia. ATM gene sequencing is performed evidencing a homozygous mutation not reported in literature. Discussion: In Latin America are sparse the number of reports of patients with ataxia telangiectasia and only few of these describe their molecular findings. Molecular studies allow the diagnosis and a better orientation in the management and prognosis of patients with neurodegenerative diseases. The report of undescribed molecular variants is of great importance to establish the etiology of such diseases in diverse population groups, such as the countries of Latin America.

Palabras clave : Ataxia-telangiectasia; cerebellar ataxia; medical genetic; neurodegenerative disease.

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