Two types of recessive hereditary spastic paraplegia in Roma patients in compound heterozygous state; no ethnically prevalent variant found
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F61989592%3A15110%2F20%3A73602463" target="_blank" >RIV/61989592:15110/20:73602463 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11130/20:10410779 RIV/00064203:_____/20:10410779
Result on the web
<a href="https://reader.elsevier.com/reader/sd/pii/S0304394020300707?token=66AD777E902BE0F7312FB82179546BD068C1399666650175EC6FD1330E48D65A98FC2A9305965734C5269BF387BF75D7" target="_blank" >https://reader.elsevier.com/reader/sd/pii/S0304394020300707?token=66AD777E902BE0F7312FB82179546BD068C1399666650175EC6FD1330E48D65A98FC2A9305965734C5269BF387BF75D7</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1016/j.neulet.2020.134800" target="_blank" >10.1016/j.neulet.2020.134800</a>
Alternative languages
Result language
angličtina
Original language name
Two types of recessive hereditary spastic paraplegia in Roma patients in compound heterozygous state; no ethnically prevalent variant found
Original language description
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.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
10603 - Genetics and heredity (medical genetics to be 3)
Result continuities
Project
<a href="/en/project/NV15-31899A" target="_blank" >NV15-31899A: Hereditary recessive diseases in Czech Roma – improved diagnostics and search for new causes by the use of homozygosity mapping and exome sequencing.</a><br>
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2020
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
NEUROSCIENCE LETTERS
ISSN
0304-3940
e-ISSN
—
Volume of the periodical
721
Issue of the periodical within the volume
March 2020
Country of publishing house
NL - THE KINGDOM OF THE NETHERLANDS
Number of pages
7
Pages from-to
"'134800(1)'"-"'134800(7)'"
UT code for WoS article
000520944800024
EID of the result in the Scopus database
2-s2.0-85078942683