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Novel homozygous pathogenic mitochondrial DNAJC19 variant in a patient with dilated cardiomyopathy and global developmental delay
Journal article   Peer reviewed

Novel homozygous pathogenic mitochondrial DNAJC19 variant in a patient with dilated cardiomyopathy and global developmental delay

Abeer Al Tuwaijri, Yusra Alyafee, Mashael Alharbi, Maryam Ballow, Mohammed Aldrees, Qamre Alam, Rola A. Sleiman, Muhammad Umair and Majid Alfadhel
Molecular genetics & genomic medicine, Vol.10(8), pp.e1969-n/a
08/2022
DOI: https://doi.org/10.1002/mgg3.1969
PMID: 35611801

Abstract

3‐methylglutaconic aciduria cardiolipin dilated cardiomyopathy DNAJC19 global developmental delay homozygous mitochondria Original
Using WES followed by Sanger sequencing we identified a novel homozygous variant in the exon 4 of the DNAJC19 gene (c.159del [Phe54Leufs*5]). Quantitative gene expression analysis showed that the DNAJC19 mRNA expression in our patient was substantially reduced compared to the control. The present study represents the first report of a DCMA syndrome in the Middle East.

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