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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))