CAV3 gene sequence variations: National Genome Database and clinics. (28th January 2015)

• Record Type: Journal Article
• Authors: Stavusis, J.; Inashkina, I.; Jankevics, E.; Radovica, I.; Micule, I.; Strautmanis, J.; Naudina, M. S.; Utkus, A.; Burnyte, B.; Lace, B.
• Is Part Of: Acta neurologica Scandinavica. Volume 132:Number 3(2015:Sep.)
• Page Start: 185
• Page End: 190
• Publication Date: 2015-01-28
• Subjects: Neurology -- Periodicals; 616.8
• DOI: 10.1111/ane.12369
• Languages: English
• ISSNs: 0001-6314

Abstract

<abstract abstract-type="main" id="ane12369-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="ane12369-sec-0001" sec-type="section"> <title>Introduction</title> <p>Caveolinopathies are a group of untreatable, degenerative muscle diseases associated with caveolin 3 (<italic>CAV3</italic>) gene mutations.</p> </sec> <sec id="ane12369-sec-0002" sec-type="section"> <title>Objectives</title> <p>The goal of this study was to characterize the role of the <italic>CAV3</italic> gene in patients with limb‐girdle muscular dystrophy, hyperCKemia, cardiomyopathies, as well as utilization of the National Genome Database in clinical applications.</p> </sec> <sec id="ane12369-sec-0003" sec-type="section"> <title>Materials and methods</title> <p>We sequenced the coding region and exon/intron boundaries of <italic>CAV3</italic> gene in 81 neuromuscular disorder patients, a sample group from the National Genome Database, consisting of 97 individuals with cardiomyopathies, and also random selection of 100 persons. Immunohistochemical staining of muscle biopsy was performed to verify findings in one case, as the setup for the project was to use less invasive molecular biology methods.</p> </sec> <sec id="ane12369-sec-0004" sec-type="section"> <title>Results</title> <p>We identified three novel sequence variations (c.183C>G, p.S61R; c.220C>A, p.R74S; c.220C>T, p.R74C) and found evidence that one was associated with hypercreatine kinase‐emia. Two previously reported mutations in families with limb‐girdle muscular dystrophy were found. No mutations were identified in the cohort of patients with cardiomyopathies.</p> </sec> <sec id="ane12369-sec-0005" sec-type="section"> <title>Discussion</title> <p> <italic>CAV3</italic> gene encodes muscle‐specific protein with dominant negative type of missense mutations in it causing various phenotypes. Our study confirmed <italic>CAV3</italic> gene involvement in neuromuscular disorders, but found no evidence in the group of patients with cardiomyopathies. Persons included in the National Genome Database could be screened for late onset Mendelian diseases.</p> </sec> </abstract>