Vol 50, No 6 (2016)

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CAV3 mutation in a patient with transient hyperCKemia and myalgia

Anna Macias1, Tomasz Gambin23, Przemyslaw Szafranski2, Shalini N. Jhangiani2, Anna Kolasa4, Ewa Obersztyn5, James R. Lupski2678, Pawel Stankiewicz2, Anna Kaminska1
DOI: 10.1016/j.pjnns.2016.06.008
Neurol Neurochir Pol 2016;50(6):468-473.

Abstract

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.

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Neurologia i Neurochirurgia Polska