Opera Medica et Physiologica

The Identification of the Genetic Cause of the Cerebellar Hypoplasia Disorder

Author Affiliations

M.S. Protasova 1, 2, A.P. Grigorenko 1, 2, 3, T.V. Tyazhelova 2, T.V. Andreeva 1, D.A. Reshetov 1, F.E. Gusev 1, I.L. Kuznetsova 2, A.Y.Goltsov 2, S.A. Klyushnikov 4, S.N. Illarioshkin 4, E.I. Rogaev 1, 5 

1 Center for Brain Neurobiology and Neurogenetics, Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, Novosibirsk 630090, Russia

2 Department of Genomics and Human Genetics, Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow 119991, Russia

3 Department of Psychiatry, Brudnick Neuropsychiatric Research Institute, University of Massachusetts Medical School, Worcester, Massachusetts 01604, USA

4 Department of Neurogenetics, Research Center of Neurology, Russian Academy of Medical Sciences, Moscow 125367, Russia

5 Faculty of Bioengineering and Bioinformatics, Lomonosov Moscow State University, Moscow 119234, Russia

Corresponding author: 

E.I. Rogaev (rogaev@vigg.ru), M.S. Protasova (protasova@rogaevlab.ru)


To identified genetic cause of congenital hypoplasia cerebellum in two families with different syndromes high- throughput sequencing analysis was performed. X-linked non-progressive ataxia in first family from Mongolian ancestry was caused by genetic defects in ABCB7 gene and modifying by ATP7A gene.