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Spastic paraplegia type 47 in Russian patients
https://doi.org/10.25557/2073-7998.2022.09.56-60
Abstract
The reason of SPG47 is homozygous and compound-heterozygous mutations in AP4B1 gene. SPG47 is characterized by microcephaly, corpus callosum hypoplasia, neonatal muscular hypotension, followed by spasticity and severe mental retardation. Variant c.1160_1161del was identified in six patients from unrelated, non-consanguineous families. Was performed haplotype analysis AP4B1 gene for four from six patients on chromosomes with this variant. As a result, there wasn’t found the only haplotype linked to this variant. Therefore, this variant can be a “hot spot” mutation, or could have spread as a result the founder effect.
About the Authors
V. A. Kadnikova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
G. E. Rudenskaya
Research Centre for Medical Genetics
Russian Federation
Russian Federation
O. L. Shatokhina
Research Centre for Medical Genetics
Russian Federation
Russian Federation
D. M. Guseva
Research Centre for Medical Genetics
Russian Federation
Russian Federation
O. P. Ryzhkova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
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Review
For citations:
Kadnikova V.A., Rudenskaya G.E., Shatokhina O.L., Guseva D.M., Ryzhkova O.P. Spastic paraplegia type 47 in Russian patients. Medical Genetics. 2022;21(9):56-60. (In Russ.) https://doi.org/10.25557/2073-7998.2022.09.56-60
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