CAV3 mutation in a patient with transient hyperCKemia and myalgia.

TitleCAV3 mutation in a patient with transient hyperCKemia and myalgia.
Publication TypeJournal Article
Year of Publication2016
AuthorsMacias, A, Gambin, T, Szafranski, P, Jhangiani, SN, Kolasa, A, Obersztyn, E, Lupski, JR, Stankiewicz, P, Kaminska, A
JournalNeurol Neurochir Pol
Date Published2016 Nov-Dec
KeywordsCaveolin 3, Colitis, Ulcerative, Creatine Kinase, Frameshift Mutation, Humans, Klinefelter Syndrome, Magnetic Resonance Imaging, Male, Membrane Proteins, Middle Aged, Muscle, Skeletal, Muscular Diseases, Mutation, Missense, Myalgia, Phenotype, Sjogren's Syndrome, Thigh

Mutations in caveolin-3 (CAV3) can lead to different clinical phenotypes affecting skeletal or cardiac muscles. Here, we describe a patient with Klinefelter syndrome, ulcerative colitis and Sjögren syndrome, who developed transient hyperCKemia, myalgia and mild muscular weakness. Using whole exome sequencing (WES), a missense mutation G169A was found in the CAV3 gene. In addition, we identified a homozygous frameshift deletion in MS4A12 that may contribute to inflammatory bowel disease, further demonstrating usefulness of WES in dual molecular diagnoses.

Alternate JournalNeurol Neurochir Pol
PubMed ID27772553

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