Major Mutation in the SPAST Gene in Patients with Autosomal Dominant Spastic Paraplegia from the Republic of Bashkortostan

Hereditary spastic paraplegia (HSP) is a group of neurodegenerative disorders with a predominant lesion of the pyramidal tract. To date, mutations responsible for the disease have been identified in more than 70 genetic loci. The main causes of HSP development are mutations in the SPAST gene, but ma...

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Bibliographic Details
Published in:	Russian journal of genetics Vol. 55; no. 2; pp. 259 - 262
Main Authors:	Khidiyatova, I. M., Akhmetgaleyeva, A. F., Saifullina, E. V., Idrisova, R. F., Yankina, M. A., Shavalieva, V. V., Magzhanov, R. V., Khusnutdinova, E. K.
Format:	Journal Article
Language:	English
Published:	Moscow Pleiades Publishing 01-02-2019
Subjects:	Animal Genetics and Genomics Biomedical and Life Sciences Biomedicine Human Genetics Microbial Genetics and Genomics Short Communications hereditary spastic paraplegia NGS target exome sequencing gene
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Summary:	Hereditary spastic paraplegia (HSP) is a group of neurodegenerative disorders with a predominant lesion of the pyramidal tract. To date, mutations responsible for the disease have been identified in more than 70 genetic loci. The main causes of HSP development are mutations in the SPAST gene, but major mutations are rare for this disease. Study of HSP patients from 63 unrelated families from the Bashkortostan Republic (BR) identified the c.283delG (p.Ala95Profs*66) mutation in the SPAST gene in families of Tatar ethnicity with a high frequency. In the general cohort of unrelated patients from the Bashkortostan Republic, its frequency was 19%, and in the cohort of Tatar patients, it was 44%. HSP was found to be inherited in an autosomal dominant manner in all families with this mutation. The clinical symptoms of the disease in most of these families corresponded to the uncomplicated phenotype, typical of the SPG4 form of HSP.
ISSN:	1022-7954 1608-3369
DOI:	10.1134/S1022795419020091