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GENATLAS PHENOTYPE
last update : 04-03-2015
Symbol RCM4
Location 2q31.2
Name restrictive cardiomyopathy 4, familial
Corresponding gene TTN
Main clinical features
  • impaired diastolic function, but intact systolic function until later stages of the disease, ultimately leading to heart failure
  • age of onset and severity/rate of progression being highly variable and there is no symptom-based evidence of skeletal muscle involvement
  • Genetic determination
    Function/system disorder
    Type disease
    Remark(s)
  • de novo mutation within exon 266 of the TTN gene, resulting in the replacement of tyrosine by cysteine. p.Y7621C affects a highly conserved region in the protein within a fibronectin-3 domain, belonging to the A/I junction region of titin (PMID: 24315344))