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 - [Medical University of Warsaw]
Anna Macias,,
, Tomasz Gambin (FEIT / IN)
Tomasz Gambin,,
- The Institute of Computer Science
, Przemyslaw Szafranski - [Baylor College of Medicine]
Przemyslaw Szafranski,,
, Shalini N. Jhangiani - [Baylor College of Medicine]
Shalini N. Jhangiani ,,
, Anna Kolasa - [Medical University of Warsaw]
Anna Kolasa,,
, Ewa Obersztyn - [Instytut Matki I Dziecka]
Ewa Obersztyn,,
, James R. Lupski - [Baylor College of Medicine]
James R. Lupski,,
, Pawel Stankiewicz - [Baylor College of Medicine]
Pawel Stankiewicz,,
, Anna Kaminska - [Medical University of Warsaw]
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
ASJC Classification2728 Clinical Neurology; 2746 Surgery
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
Score sourcejournalList
ScoreMinisterial score = 15.0, 15-05-2020, ArticleFromJournal
Ministerial score (2013-2016) = 15.0, 15-05-2020, ArticleFromJournal
Publication indicators WoS Citations = 1; Scopus Citations = 1; GS Citations = 1.0; Scopus SNIP (Source Normalised Impact per Paper): 2016 = 0.454; WoS Impact Factor: 2016 = 0.857 (2) - 2016=0.774 (5)
Citation count*2 (2020-07-27)
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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.
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