Whole-Exome Sequencing Identified a Novel Variant (C.405_422+39del) in DSP Gene in an Iranian Pedigree with Familial Dilated Cardiomyopathy | Zendy

Yeganeh Eshaghkhani | Zendy; Arezoo Mohamadifar | Zendy; Mostafa Asadollahi | Zendy; Mahdieh Taghizadeh | Zendy; Arezou Karamzade | Zendy; Mohammad Reza Saberi | Zendy; Parisa Nourmohammadi | Zendy; Zahra Golchehre | Zendy; Ahmad Amin | Zendy; Mohammad Keramatipour | Zendy

Open Access

Whole-Exome Sequencing Identified a Novel Variant (C.405_422+39del) in DSP Gene in an Iranian Pedigree with Familial Dilated Cardiomyopathy

Author(s) -

Yeganeh Eshaghkhani,

Arezoo Mohamadifar,

Mostafa Asadollahi,

Mahdieh Taghizadeh,

Arezou Karamzade,

Mohammad Reza Saberi,

Parisa Nourmohammadi,

Zahra Golchehre,

Ahmad Amin,

Mohammad Keramatipour

Publication year - 2021

Publication title -

reports of biochemistry and molecular biology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.467

H-Index - 8

ISSN - 2322-3480

DOI - 10.52547/rbmb.10.2.280

Subject(s) - proband , exome sequencing , dilated cardiomyopathy , biology , genetics , desmoplakin , nonsense mediated decay , intron , exon , heart failure , sudden death , gene , mutation , medicine , rna splicing , rna

Dilated cardiomyopathy (DCM) is a progressive heart condition characterized by left ventricular chamber enlargement associated with systolic heart failure and prolonged action potential duration. Genetic variations in genes that encode cytoskeleton, sarcomere, and nuclear envelope proteins are responsible for 45% of cases. In our study, we focused on a pedigree with familial DCM to decipher the potential genetic cause(s) in affected members developing arrhythmia, end-stage heart failure, and sudden death.

The content you want is available to Zendy users.

Already have an account? Click here to sign in.

Having issues? You can contact us here

Accelerating Research