title: CAV3 mutation in a patient with transient hyperCKemia and myalgia.
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.
authors: Department of Neurology, Medical University of Warsaw, Warsaw, Poland.
authors: Anna
authors: A
authors: Macias
authors: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, USA; Institute of Computer Science, Warsaw University of Technology, Warsaw, Poland.
authors: Tomasz
authors: T
authors: Gambin
authors: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, USA.
authors: Przemyslaw
authors: P
authors: Szafranski
authors: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, USA.
authors: Shalini N
authors: SN
authors: Jhangiani
authors: 2nd Department of Clinical Radiology, Medical University of Warsaw, Warsaw, Poland.
authors: Anna
authors: A
authors: Kolasa
authors: Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
authors: Ewa
authors: E
authors: Obersztyn
authors: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, USA; Department of Pediatrics; Human Genome Sequencing Center, Baylor College of Medicine, Houston, USA; Texas Children's Hospital, Houston, USA.
authors: James R
authors: JR
authors: Lupski
authors: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, USA.
authors: Pawel
authors: P
authors: Stankiewicz
authors: Department of Neurology, Medical University of Warsaw, Warsaw, Poland. Electronic address: amkaminska@wum.edu.pl.
authors: Anna
authors: A
authors: Kaminska
mesh_terms: D051244:Caveolin 3 / Q000235:genetics*; D003093:Colitis, Ulcerative / Q000150:complications / Q000235:genetics; D003402:Creatine Kinase / Q000097:blood*; D016368:Frameshift Mutation; D006801:Humans; D007713:Klinefelter Syndrome / Q000150:complications; D008279:Magnetic Resonance Imaging; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000000981:diagnostic imaging; D009135:Muscular Diseases / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics; D020125:Mutation, Missense; D063806:Myalgia / Q000097:blood / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D010641:Phenotype; D012859:Sjogren's Syndrome / Q000150:complications; D013848:Thigh
chemical_list: C417736:CAV3 protein, human; D051244:Caveolin 3; C436717:MS4A10 protein, human; D008565:Membrane Proteins; D003402:Creatine Kinase
keywords: Caveolin-3; Caveolinopathy; LGMD1C; Limb-girdle muscular dystrophy