{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,24]],"date-time":"2026-04-24T03:17:48Z","timestamp":1777000668274,"version":"3.51.4"},"reference-count":19,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2022,5,25]],"date-time":"2022-05-25T00:00:00Z","timestamp":1653436800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2022,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Dilated cardiomyopathy with ataxia syndrome (DCMA) or 3\u2010methylglutaconic aciduria type V is a rare global autosomal recessive mitochondrial syndrome that is clinically and genetically heterogeneous. It is characterized by early\u2010onset dilated cardiomyopathy and increased urinary excretion of 3\u2010methylglutaconic acid. As a result, some patients die due to cardiac failure, while others manifest with growth retardation, microcytic anemia, mild ataxia, and mild muscle weakness. DCMA is caused by variants in the DnaJ heat shock protein family (Hsp40) member C19 gene (<jats:italic>DNAJC19<\/jats:italic>), which plays an important role in mitochondrial protein import machinery in the inner mitochondrial membrane.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We describe a single affected family member who presented with cardiomyopathy, global developmental delay, chest infection, seizures, elevated excretion of 3\u2010methylglutaconic acid, and 3\u2010methylglutaric acid in the urine.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Whole\u2010exome sequencing followed by Sanger sequencing revealed a homozygous frameshift variant in the reading frame starting at codon 54 in exon 4 in the <jats:italic>DNAJC19<\/jats:italic> gene (c.159del [Phe54Leufs*5]), which results in a stop codon four positions downstream. Quantitative gene expression analysis revealed that <jats:italic>DNAJC19<\/jats:italic> mRNA expression in this patient was substantially reduced compared to the control.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>We present a novel variant in the <jats:italic>DNAJC19<\/jats:italic> gene that causes rare autosomal recessive mitochondrial 3\u2010methylglutaconic aciduria type V. By comparing the current case with previously reported ones, we conclude that the disease is extremely heterogeneous for reasons that are still unknown.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1969","type":"journal-article","created":{"date-parts":[[2022,5,25]],"date-time":"2022-05-25T09:54:37Z","timestamp":1653472477000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Novel homozygous pathogenic mitochondrial <i>DNAJC19<\/i> variant in a patient with dilated cardiomyopathy and global developmental delay"],"prefix":"10.1002","volume":"10","author":[{"given":"Abeer","family":"Al Tuwaijri","sequence":"first","affiliation":[{"name":"Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King AbdulAziz Medical City Ministry of National Guard Health Affairs  Riyadh Kingdom of Saudi 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