Two types of recessive hereditary spastic paraplegia in Roma patients in compound heterozygous state; no ethnically prevalent variant found

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/00216208:11130/20:10410779 RIV/00064203:_____/20:10410779

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

Two types of recessive hereditary spastic paraplegia in Roma patients in compound heterozygous state; no ethnically prevalent variant found

Popis výsledku v původním jazyce

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&gt;A and del ex. 16-18) and FARS2 (c.1082C&gt;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.

Název v anglickém jazyce

Two types of recessive hereditary spastic paraplegia in Roma patients in compound heterozygous state; no ethnically prevalent variant found

Popis výsledku anglicky

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&gt;A and del ex. 16-18) and FARS2 (c.1082C&gt;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.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

10603 - Genetics and heredity (medical genetics to be 3)

Projekt

<a href="/cs/project/NV15-31899A" target="_blank" >NV15-31899A: Dědičná recesivní onemocnění u českých Romů – zefektivnění a rozšíření diagnostiky s využitím homozygotního mapování a celoexomového sekvenování.</a><br>

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2020

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

NEUROSCIENCE LETTERS

ISSN

0304-3940

e-ISSN

—

Svazek periodika

721

Číslo periodika v rámci svazku

March 2020

Stát vydavatele periodika

NL - Nizozemsko

Počet stran výsledku

7

Strana od-do

"'134800(1)'"-"'134800(7)'"

Kód UT WoS článku

000520944800024

EID výsledku v databázi Scopus

2-s2.0-85078942683