دورية أكاديمية
Novel missense variant of CACNA1A gene in a Slovak family with episodic ataxia type 2
| العنوان: | Novel missense variant of CACNA1A gene in a Slovak family with episodic ataxia type 2 |
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| المؤلفون: | Andrea Petrovicova, Miroslav Brozman, Egon Kurca, Tibor Gobo, Jana Dluha, Klaudia Kalmarova, Vladimir Nosal, Martina Hikkelova, Adriana Krajciova, Tatiana Burjanivova, Stefan Sivak |
| المصدر: | Biomedical Papers, Vol 161, Iss 1, Pp 107-110 (2017) |
| بيانات النشر: | Palacký University Olomouc, Faculty of Medicine and Dentistry, 2017. |
| سنة النشر: | 2017 |
| المجموعة: | LCC:Medicine |
| مصطلحات موضوعية: | episodic ataxia type 2, novel variant, cacna1a, pore loop, Medicine |
| الوصف: | Introduction: Episodic ataxias (EAs) are rare dominantly inherited neurological disorders characterized by recurrent episodes of ataxia lasting minutes to hours. The most common subtype is EA type 2 (EA2) caused by pathogenic variants of calcium voltage-gated channel subunit alpha1 A gene (CACNA1A) on chromosome 19p13. Subjects and Methods: We examined a Slovak three-generation family. Genomic DNA of the family members was extracted from peripheral blood and amplified by polymerase chain reaction. CACNA1A variants were screened by Sanger sequencing. Results: We identified four family members with recurrent episodes of ataxia. Complex differential diagnosis was performed. Genetic analysis with direct sequencing revealed a novel heterozygous variant of CACNA1A - c.5264A>G (p.Glu1755Gly) located in the pore loop of domain IV of calcium channel alpha-1A subunit. Conclusion: We identified a novel missense variant of a voltage-dependent P/Q-type calcium channel alpha-1A subunit in a Slovak three-generation family with recurrent episodes of ataxia. The heterozygous missense variant resulted in changing a highly conserved glutamic acid within the pore loop of domain IV. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 1213-8118 1804-7521 |
| Relation: | https://biomed.papers.upol.cz/artkey/bio-201701-0015_Novel_missense_variant_of_CACNA1A_gene_in_a_Slovak_family_with_episodic_ataxia_type_2.php; https://doaj.org/toc/1213-8118; https://doaj.org/toc/1804-7521 |
| DOI: | 10.5507/bp.2016.066 |
| URL الوصول: | https://doaj.org/article/f5fc06ee32144b7fb547dc3b1d0d1568 |
| رقم الأكسشن: | edsdoj.f5fc06ee32144b7fb547dc3b1d0d1568 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 12138118 18047521 |
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| DOI: | 10.5507/bp.2016.066 |