CAV3 mutation in a patient with transient hyperCKemia and myalgia

Anna Macias , Tomasz Gambin , Przemyslaw Szafranski , Shalini N. Jhangiani , Anna Kolasa , Ewa Obersztyn , James R. Lupski , Pawel Stankiewicz , Anna Kaminska


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.
Author Anna Macias
Anna Macias,,
, Tomasz Gambin II
Tomasz Gambin,,
- The Institute of Computer Science
, Przemyslaw Szafranski
Przemyslaw Szafranski,,
, Shalini N. Jhangiani
Shalini N. Jhangiani ,,
, Anna Kolasa
Anna Kolasa,,
, Ewa Obersztyn
Ewa Obersztyn,,
, James R. Lupski
James R. Lupski,,
, Pawel Stankiewicz
Pawel Stankiewicz,,
, Anna Kaminska
Anna Kaminska,,
Journal seriesNeurologia i Neurochirurgia Polska, ISSN 0028-3843
Issue year2016
NoIssue 6
Publication size in sheets0.5
Keywords in EnglishCaveolin-3;Caveolinopathy;Limb-girdle muscular dystrophy; LGMD1C
projectDevelopment of new algorithms in the areas of software and computer architecture, artificial intelligence and information systems and computer graphics . Project leader: Rybiński Henryk, , Phone: +48 22 234 7731, start date 18-05-2015, end date 30-11-2016, II/2015/DS/1, Completed
WEiTI Działalność statutowa
Languageen angielski
CAV3.pdf 972.24 KB
Score (nominal)15
ScoreMinisterial score = 15.0, 27-03-2017, ArticleFromJournal
Ministerial score (2013-2016) = 15.0, 27-03-2017, ArticleFromJournal
Publication indicators WoS Impact Factor: 2016 = 0.857 (2) - 2016=0.774 (5)
Citation count*0 (2018-07-14)
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* presented citation count is obtained through Internet information analysis and it is close to the number calculated by the Publish or Perish system.