Abstract：
:Dilated cardiomyopathy (DCM) is the leading indication for heart transplantation. TTN gene truncating mutations account for about 25% of familial DCM cases and for 18% of sporadic DCM cases. The clinical relevance of specific variants in TTN has been difficult to determine because of the sheer size of the protein for which TTN encodes, as well as existing extensive genetic variation. Clinicians should communicate novel clinically-relevant variants and genotype-phenotype associations, so that animal studies evaluating the molecular mechanisms are always conducted with a focus on clinical significance. In the present study, we report for the first time the novel truncating heterozygous variant NM_001256850.1:c.72777_72783del (p.Phe24259Leufs*51) in the TTN gene and its association with DCM in a family with sudden death. This variant occurs in the A-band region of the sarcomere, in a known mutational hotspot of the gene. Truncating titin variants that occur in this region are the most common cause of DCM and have been rarely reported in asymptomatic individuals, differently from other pathogenic TTN gene variants. Further studies are warranted to better understand this particular clinically-relevant variant.
journal_name
Int J Mol Scijournal_title
International journal of molecular sciencesauthors
Micaglio E,Monasky MM,Bernardini A,Mecarocci V,Borrelli V,Ciconte G,Locati ET,Piccoli M,Ghiroldi A,Anastasia L,Pappone Cdoi
10.3390/ijms22020670subject
Has Abstractpub_date
2021-01-12 00:00:00issue
2issn
1422-0067pii
ijms22020670journal_volume
22pub_type
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