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Familial case of ataxia-telangiectasia
https://doi.org/10.25557/2073-7998.2022.10.4-8
Abstract
Aim: description of a family case of ataxia-telangiectasia. Methods. Two brothers with atactic syndrome of unknown origin were examined. Molecular genetic study was performed by whole genome sequencing (LLC Evogen, Moscow). Results. A patient aged 1 year 9 months with symptoms of ataxia and an immunodeficiency state and his brother (6 years 9 months) underwent a clinical examination and molecular genetic testing. According to its results, 2 variants of the nucleotide sequence were found in the compound-heterozygous state of the ATM gene: in exon 40, leading to premature termination of p.Glu1978Ter protein synthesis (paternal origin) and in exon 58, leading to premature termination of p.Arg2849Ter protein synthesis (maternal origin) These variants are described in the compound heterozygous and homozygous state in patients with ataxia-telangiectasia. Conclusions. Establishing an accurate diagnosis for patients will allow timely determination of an observation plan that is interdisciplinary, as well as effectively carrying out preventive and rehabilitation measures. Medical genetic counseling of the family was carried out, the prognosis for the development of the disease for family members was clarified.
About the Authors
L. I. Minaycheva
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
L. P. Nazarenko
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
E. G. Ravzhaeva
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
G. N. Seitova
Research Institute of Medical Genetics, Tomsk National Research Medical Center of the Russian Academy of Sciences
Russian Federation
Russian Federation
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Review
For citations:
Minaycheva L.I., Nazarenko L.P., Ravzhaeva E.G., Seitova G.N. Familial case of ataxia-telangiectasia. Medical Genetics. 2022;21(10):4-8. (In Russ.) https://doi.org/10.25557/2073-7998.2022.10.4-8
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