Does p. Q247X in TRIM63 Cause Human Hypertrophic Cardiomyopathy?

作者：Ploski Rafal; Pollak Agnieszka; Mueller Sonja; Franaszczyk Maria; Michalak Ewa; Kosinska Joanna; Stawinski Piotr; Spiewak Mateusz; Seggewiss Hubert; Bilinska Zofia T^*

来源：Circulation Research, 2014, 114(2): E2-E5.

DOI：10.1161/CIRCRESAHA.114.302662

• cardiomyopathy
• hypertrophic
• TRIM63 protein
• human

Rationale: Variants in TRIM63, including a nonsense mutation (p.Q247X), have been suggested recently to cause hypertrophic cardiomyopathy.
Objective: To verify pathogenicity of TRIM63 p.Q247X detected by whole-exome sequencing in a symptomless professional sports player seeking medical advice because of a prolonged QT interval found during a routine check-up.
Methods and Results: Clinical studies were performed in the proband and his mother, who also carried TRIM63 p.Q247X. No evidence of hypertrophic cardiomyopathy was found in either person.
Conclusions: The p.Q247X variant in TRIM63 is not likely to be a highly penetrant variant causing hypertrophic cardiomyopathy.

• 出版日期2014-1-17