Disease-Causing Variants in the ATL1 Gene Are a Rare Cause of Hereditary Spastic Paraplegia among Czech Patients

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F17%3A10373197" target="_blank" >RIV/00216208:11130/17:10373197 - isvavai.cz</a>

Alternative codes found

RIV/00843989:_____/17:E0106584 RIV/00064203:_____/17:10373197 RIV/65269705:_____/17:00074193

Result on the web

<a href="https://doi.org/10.1111/ahg.12206" target="_blank" >https://doi.org/10.1111/ahg.12206</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1111/ahg.12206" target="_blank" >10.1111/ahg.12206</a>

Result language

angličtina

Original language name

Disease-Causing Variants in the ATL1 Gene Are a Rare Cause of Hereditary Spastic Paraplegia among Czech Patients

Original language description

Variants in the ATL1 gene have been repeatedly described as the second most frequent cause of hereditary spastic paraplegia (HSP), a motor neuron disease manifested by progressive lower limb spasticity and weakness. Variants in ATL1 have been described mainly in patients with early onset HSP. We performed Sanger sequencing of all coding exons and adjacent intron regions of the ALT1 gene in 111 Czech patients with pure form of HSP and additional Multiplex-Ligation Probe Analysis (MLPA) testing targeting the ATL1 gene in 56 of them. All patients except seven were previously tested by Sanger sequencing of the SPAST gene with negative results. ATL1 diagnostic testing revealed only five missense variants in the ATL1 gene. Four of them are novel, but we suppose only two of them to be pathogenic and causal. The remaining variants are assumed to be benign. MLPA testing in 56 of sequence variant negative patients revealed no gross deletion in the ATL1 gene. Variants in the ATL1 gene are more frequent in patients with early onset HSP, but in general the occurrence of pathogenic variants in the ATL1 gene is low in our cohort, less than 4.5% and less than 11.1% in patients with onset before the age of ten. Variants in the ATL1 gene are a less frequent cause of HSP among Czech patients than has been previously reported among other populations.

Czech name

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Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

—

OECD FORD branch

30103 - Neurosciences (including psychophysiology)

Project

<a href="/en/project/NV16-31921A" target="_blank" >NV16-31921A: Unknown cause of DFNB1 deafness in patients with only one pathogenic GJB2 gene mutation – complex elucidation by new molecular genetic approaches.</a><br>

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2017

Confidentiality

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

Name of the periodical

Annals of Human Genetics

ISSN

0003-4800

e-ISSN

—

Volume of the periodical

81

Issue of the periodical within the volume

6

Country of publishing house

GB - UNITED KINGDOM

Number of pages

9

Pages from-to

249-257

UT code for WoS article

000412458100003

EID of the result in the Scopus database

2-s2.0-85025455098