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články
články
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Source: BMČ - články
Title
Two types of recessive hereditary spastic paraplegia in Roma patients in compound heterozygous state; no ethnically prevalent variant found / AU. Meszarosova, P. Seeman, J. Jencik, J. Drabova, R. Cibochova, J. Stellmachova, D. Safka Brozkova
Author
Mészárosová, Anna Uhrová
DNA Laboratory, Department of Paediatric Neurology, 2nd Faculty of Medicine Charles University and University Hospital Motol, Prague, Czech Republic. Electronic address: anna.meszarosova@lfmotol.cuni.cz

Seeman, Pavel
DNA Laboratory, Department of Paediatric Neurology, 2nd Faculty of Medicine Charles University and University Hospital Motol, Prague, Czech Republic

Jencik, Jan
DNA Laboratory, Department of Paediatric Neurology, 2nd Faculty of Medicine Charles University and University Hospital Motol, Prague, Czech Republic

Drabova, Jana
Department of Biology and Medical Genetics, 2nd Faculty of Medicine Charles University and University Hospital Motol, Prague, Czech Republic

Cibochová, Renata
Department of Paediatric Neurology, 2nd Faculty of Medicine Charles University and University Hospital Motol, Prague, Czech Republic

Stellmachova, Julia
Department of Medical Genetics, Palacký University Hospital, Olomouc, Czech Republic

Safka Brozkova, Dana
DNA Laboratory, Department of Paediatric Neurology, 2nd Faculty of Medicine Charles University and University Hospital Motol, Prague, Czech Republic

Cited source
Neuroscience letters. 2020, roč. 721, č. -, s. 134800. ISSN: 0304-3940; 1872-7972 (online).
Date of issue
2020
Language
angličtina
Country
Irsko
Document type
články
DOI
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Link
Record number
bmc21020683
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English Abstract
Hereditary spastic paraplegia (HSP or SPG) is a group of rare upper motor neuron diseases. As some ethnically-specific, disease-causing homozygous variants were described in the Czech Roma population, we hypotesised that some prevalent HSP-causing variant could exist in this population. Eight Czech Roma patients were found in a large group of Czech patients with suspected HSP and were tested using gene panel massively parallel sequencing (MPS). Two of the eight were diagnosed with SPG11 and SPG77, respectively. The SPG77 patient manifests a pure HSP phenotype, which is unusual for this SPG type. Both patients are compound heterozygotes for two different variants in the SPG11 (c.1603-1G>A and del ex. 16-18) and FARS2 (c.1082C>T and del ex.1-2) genes respectively; the three variants are novel. In order to find a potential ethnically-specific, disease-causing variant for HSP, we tested the heterozygote frequency of these variants among 130 anonymised DNA samples of Czech Roma individuals without clinical signs of HSP (HPS-negative). A novel deletion of ex.16-18 in the SPG11 gene was found in a heterozygous state in one individual in the HSP-negative group. Haplotype analysis showed that this individual and the patient with SPG11 shared the same haplotype. This supports the assumption that the identified SPG11 deletion could be a founder mutation in the Czech Roma population. In some Roma patients the disease may also be caused by two different biallelic pathogenic mutations.
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