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DIFFERENTIAL DIAGNOSIS OF HEREDITARY SYNDROME OF HYPOCHOLESTEROLEMIA BY USING EXOMIC SEQUENCING

https://doi.org/10.20996/1819-6446-2014-10-5-509-512

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Abstract

Clinical case study is described. Patient D, 55 years old, applied to the Lipid clinic of State Research Centre for Preventive Medicine because of low blood cholesterol level. Results of the differential diagnosis of the hypocholesterolemia syndrome by using exomic sequencing are presented. This method allows to sequence the majority of regions of genome containing exons, protein-coding parts of genes. Heterozygous mutation in the gene for APOB (5 nucleotides deletion) was found out in the patient by using exomic sequencing. This mutation leads to a premature stop codon with violation of apolipoprotein B-100 synthesis and causes inherited monogenic disease - family hypobetalipoproteinemia.

About the Authors

A. I. Yershova
State Research Centre for Preventive Medicine
Russian Federation
Petroverigsky per. 10, Moscow, 101990 Russia


N. V. Shcherbakova
State Research Centre for Preventive Medicine
Russian Federation
Petroverigsky per. 10, Moscow, 101990 Russia


A. A. Suvorova
State Research Centre for Preventive Medicine
Russian Federation
Petroverigsky per. 10, Moscow, 101990 Russia


E. Y. Hlebus
State Research Centre for Preventive Medicine
Russian Federation
Petroverigsky per. 10, Moscow, 101990 Russia


I. V. Sidonets
State Research Centre for Preventive Medicine
Russian Federation
Petroverigsky per. 10, Moscow, 101990 Russia


A. N. Meshkov
State Research Centre for Preventive Medicine
Russian Federation
Petroverigsky per. 10, Moscow, 101990 Russia


S. A. Boytsov
State Research Centre for Preventive Medicine
Russian Federation
Petroverigsky per. 10, Moscow, 101990 Russia


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For citation:


Yershova A.I., Shcherbakova N.V., Suvorova A.A., Hlebus E.Y., Sidonets I.V., Meshkov A.N., Boytsov S.A. DIFFERENTIAL DIAGNOSIS OF HEREDITARY SYNDROME OF HYPOCHOLESTEROLEMIA BY USING EXOMIC SEQUENCING. Rational Pharmacotherapy in Cardiology. 2014;10(5):509-512. (In Russ.) https://doi.org/10.20996/1819-6446-2014-10-5-509-512

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ISSN 1819-6446 (Print)
ISSN 2225-3653 (Online)