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CAV3 mutation in a patient with transient hyperCKemia and myalgia
Affiliations- Department of Neurology, Medical University of Warsaw, 8 Kondratowicza str, 03-242 Warsaw, Poland
- Department of Molecular and Human Genetics, Baylor College of Medicine, Houston
- Institute of Computer Science, Warsaw University of Technology, Warsaw, Poland
- 2nd Department of Clinical Radiology, Medical University of Warsaw, Warsaw, Poland
- Department of Medical Genetics, Institute of Mother and Child, Poland
- Çanakkale Onsekiz Mart University, School of Medicine, Department of Pediatrics, Türkiye
- Human Genome Sequencing Center, Baylor College of Medicine, Houston
- Texas Children's Hospital, Houston
open access
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.
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.
Keywords
Caveolin-3, Caveolinopathy, Limb-girdle muscular dystrophy, LGMD1C
About this articleTitle
CAV3 mutation in a patient with transient hyperCKemia and myalgia
Journal
Neurologia i Neurochirurgia Polska
Issue
Pages
468-473
Page views
715
Article views/downloads
829
DOI
10.1016/j.pjnns.2016.06.008
Bibliographic record
Neurol Neurochir Pol 2016;50(6):468-473.
Keywords
Caveolin-3
Caveolinopathy
Limb-girdle muscular dystrophy
LGMD1C
Authors
Anna Macias
Tomasz Gambin
Przemyslaw Szafranski
Shalini N. Jhangiani
Anna Kolasa
Ewa Obersztyn
James R. Lupski
Pawel Stankiewicz
Anna Kaminska
