Whole-exome sequencing identified compound heterozygous variants in the TTN gene causing Salih myopathy with dilated cardiomyopathy in an Iranian family.

Mohammad MahdaviNeda Mohsen-PourMajid MalekiMahshid HesamiNiloofar NaderiGolnaz HoushmandHamid R Rasouli JaziHossein ShahzadiSamira Kalayinia

Published in: Cardiology in the young (2021)

The compound heterozygous variants, c.61280A>C, (p. Gln20427Pro) and c.54970G>A, (p. Gly18324Ser) in the TTN gene appear to be the cause of Salih myopathy and dilated cardiomyopathy in the family presented. Whole-exome sequencing is an effective molecular diagnostic tool to identify the causative genetic variants of large genes such as TTN.

Keyphrases

copy number
genome wide
genome wide identification
early onset
late onset
dna methylation
genome wide analysis