Paramyotonia congenita in a Slovak population: Genetic and pedigree analysis of 3 families

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F65269705%3A_____%2F19%3A00072312" target="_blank" >RIV/65269705:_____/19:00072312 - isvavai.cz</a>

Výsledek na webu

<a href="http://biomed.papers.upol.cz/pdfs/bio/2019/04/12.pdf" target="_blank" >http://biomed.papers.upol.cz/pdfs/bio/2019/04/12.pdf</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.5507/bp.2018.078" target="_blank" >10.5507/bp.2018.078</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Paramyotonia congenita in a Slovak population: Genetic and pedigree analysis of 3 families

Popis výsledku v původním jazyce

Background. Paramyotonia congenita is a non-dystrophic myotonia, in which muscle relaxation is delayed after voluntary or evoked contraction. This condition cannot be distinguished on the basis of symptoms and signs alone. It requires consideration of genetics as more than 100 mutations in the CLCN1 gene and at least 20 mutations in the SCN4A gene are associated with the clinical features of the non-dystrophic myotonias. Only a few families with the described features but no genetic testing have been reported in Slovakia. This prompted us to investigate genetic mutations in the SCN4A gene in 3 Slovak families clinically diagnosed with paramyotonia. Subjects and Methods. Genomic DNA of the family members was extracted from peripheral blood and amplified by polymerase chain reaction. SCN4A variants were screened by Sanger sequencing. Results. Our results revealed 2 potential disease-causing mutations present in the probands and affected family members - mutations c.3938C &gt; T (p.T1313M) in two families and mutation c.2111C&gt;T (p. T704M) in one family. Conclusion. Our results may help to identify genetic determinants as well as clarify genotype-phenotype relationships in patients with paramyotonia in Slovakia.

Název v anglickém jazyce

Paramyotonia congenita in a Slovak population: Genetic and pedigree analysis of 3 families

Popis výsledku anglicky

Background. Paramyotonia congenita is a non-dystrophic myotonia, in which muscle relaxation is delayed after voluntary or evoked contraction. This condition cannot be distinguished on the basis of symptoms and signs alone. It requires consideration of genetics as more than 100 mutations in the CLCN1 gene and at least 20 mutations in the SCN4A gene are associated with the clinical features of the non-dystrophic myotonias. Only a few families with the described features but no genetic testing have been reported in Slovakia. This prompted us to investigate genetic mutations in the SCN4A gene in 3 Slovak families clinically diagnosed with paramyotonia. Subjects and Methods. Genomic DNA of the family members was extracted from peripheral blood and amplified by polymerase chain reaction. SCN4A variants were screened by Sanger sequencing. Results. Our results revealed 2 potential disease-causing mutations present in the probands and affected family members - mutations c.3938C &gt; T (p.T1313M) in two families and mutation c.2111C&gt;T (p. T704M) in one family. Conclusion. Our results may help to identify genetic determinants as well as clarify genotype-phenotype relationships in patients with paramyotonia in Slovakia.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30100 - Basic medicine

Projekt

—

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2019

Kód důvěrnosti údajů

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

Název periodika

Biomedical papers

ISSN

1213-8118

e-ISSN

—

Svazek periodika

163

Číslo periodika v rámci svazku

4

Stát vydavatele periodika

CZ - Česká republika

Počet stran výsledku

4

Strana od-do

362-365

Kód UT WoS článku

000506054400012

EID výsledku v databázi Scopus

2-s2.0-85076611278