Details

Autor(en) / Beteiligte

• Hautakangas, Milla-Riikka
• Widgren, Paula
• Korpelainen, Paavo
• Kangas, Salla M
• Komulainen, Tuomas
• Vieira, Päivi
• Rahikkala, Elisa
• Pylkäs, Katri
• Tuominen, Hannu
• Kokkonen, Hannaleena
• Miinalainen, Ilkka
• Nadaf, Javad
• Majewski, Jacek
• Hinttala, Reetta
• Uusimaa, Johanna

Titel

Infantile onset encephalomyopathy, retinopathy, optic atrophy, and mitochondrial DNA depletion associated with a novel pathogenic DHX16 variant

Ist Teil von

• Clinical genetics, 2023-12, Vol.104 (6), p.686-693

Ort / Verlag

Denmark: Blackwell Publishing Ltd

Erscheinungsjahr

2023

Quelle

Wiley Online Library - AutoHoldings Journals

Beschreibungen/Notizen

• We studied a patient with mitochondrial DNA depletion in skeletal muscle and a multiorgan phenotype, including fatal encephalomyopathy, retinopathy, optic atrophy, and sensorineural hearing loss. Instead of pathogenic variants in the mitochondrial maintenance genes, we identified previously unpublished variant in DHX16 gene, a de novo heterozygous c.1360C>T (p. Arg454Trp). Variants in DHX16 encoding for DEAH-box RNA helicase have previously been reported only in five patients with a phenotype called as neuromuscular oculoauditory syndrome including developmental delay, neuromuscular symptoms, and ocular or auditory defects with or without seizures. We performed functional studies on patient-derived fibroblasts and skeletal muscle revealing, that the DHX16 expression was decreased. Clinical features together with functional data suggest, that our patient's disease is associated with a novel pathogenic DHX16 variant, and mtDNA depletion could be a secondary manifestation of the disease.