CAV3 mutation in a patient with transient hyperCKemia and myalgia

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• 作者：Anna Macias^a ; Tomasz Gambin^b ; ^c ; Przemyslaw Szafranski^b ; Shalini N. Jhangiani^b ; Anna Kolasa^d ; Ewa Obersztyn^e ; James R. Lupski^b ; ^f ; ^g ; ^h ; Pawel Stankiewicz^b ; Anna Kaminska^a ; ^{amkaminska@wum.edu.pl" class="auth_mail" title="E-mail the corresponding author}
• 关键词：Caveolin-3 ; Caveolinopathy ; Limb-girdle muscular dystrophy ; LGMD1C
• 刊名：Neurologia i Neurochirurgia Polska
• 出版年：2016
• 出版时间：November-December 2016
• 年：2016
• 卷：50
• 期：6
• 页码：468-473
• 全文大小：1017 K

文摘

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.