<i>CAV3</i>gene sequence variations: National Genome Database and clinics

Stavusis, Janis; Inashkina, Inna; Jankevics, Eriks; Radovica, Ilze; Mičule, Ieva; Strautmanis, Jurgis; Naudina, Maruta Solvita; Utkus, Algirdas; Burnytė, Birutė; Lāce, Baiba

doi:10.1111/ane.12369

Cited by 4 publications

(2 citation statements)

References 18 publications

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“…In the heart, CAV3 mutations are associated with hypertrophic cardiomyopathy and LQTS, so called LQT9 17, 45 . Of the known mutations related to caveolinopathies, the majority are in the highly conserved scaffolding domains 46 while in LQT9 the majority are in the scaffolding and membrane domains. Here we find that the scaffolding and membrane Cav-3 domains interact (indirectly or directly) with Kir2.1 and Kir2.2.…”

Section: Discussionmentioning

confidence: 99%

Inward Rectifier Potassium Channels (Kir2.x) and Caveolin-3 Domain–Specific Interaction

Vaidyanathan

Ert

Haq

et al. 2018

Circ: Arrhythmia and Electrophysiology

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Kir2.x isoforms have a unique intracellular pattern of distribution in association with specific Cav3 domains and that critically depends on interaction with N-terminal Kir2.x Cav3-binding motifs. Long-QT syndrome-9- mutation differentially regulates current density and cell surface expression of Kir2.x homomeric and heteromeric channels. Mathematical Purkinje cell model incorporating experimental findings suggests delayed after-depolarization-type triggered activity as a possible arrhythmia mechanism.

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Section: Discussionmentioning

confidence: 99%

Inward Rectifier Potassium Channels (Kir2.x) and Caveolin-3 Domain–Specific Interaction

Vaidyanathan

Ert

Haq

et al. 2018

Circ: Arrhythmia and Electrophysiology

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“…CAV‐3 is a muscle‐specific protein, which is a principal integral membrane component of caveolae. CAV3 mutations can lead to distinct neuromuscular and cardiac muscle disorders, such as limb girdle muscular dystrophy type 1C (LGMD1C), idiopathic persistent elevation of serum creatine kinase, inherited rippling muscle disease (RMD), distal myopathy (MD), and familial hypertrophic cardiomyopathy (HCM) …”

Section: Introductionmentioning

confidence: 99%

Mutation in the caveolin‐3 gene causes asymmetrical distal myopathy

et al. 2016

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Mutations in the gene encoding caveolin-3 (CAV3) can cause a broad spectrum of clinical phenotypes, including limb girdle muscular dystrophy, rippling muscle disease, distal myopathy (MD), idiopathic persistent elevation of serum creatine kinase and cardiomyopathy. MD is a relatively rare subtype of caveolinopathy. Here, we report a sporadic case of a middle-aged female Chinese patient with MD in which a CAV3 mutation was identical to that previously reported in cases of rippling muscle disease. T1-weighted enhanced skeletal muscle MRI of the lower limbs showed an abnormal signal in the distal and proximal muscles. A muscle biopsy revealed moderate dystrophic changes, and immunohistochemical staining showed reduced CAV-3 expression in the plasmalemma. Genetic analysis revealed a heterozygous c.136G > A (p.Ala46Thr) CAV3 mutation that appeared to be de novo because it was absent from the patient's parents. This study suggested that the CAV3 c.136G > A (p.Ala46Thr) mutation can cause MD as well as different phenotypes in different individuals, suggesting that additional unknown loci must affect the disease phenotypes.

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