A Rare Case of Neuromuscular Oculoauditory Syndrome

Selvan, Tamil; Archana, Arumugom; Kumar, VenkatramanR; Abinaya, K; Kasturi, Nirupama

doi:10.4103/aian.aian_67_22

Cited by 2 publications

(10 citation statements)

References 4 publications

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“…1). 4,8 Interestingly, a muscle biopsy of one previously described patient also revealed myopathy and increased glycogen and fatty vacuole corresponding to the findings in our patient (Table 1). 4 MtDNA analysis on skeletal muscle biopsy revealed mtDNA depletion and patients with MDDS have several clinical features similar to our patient, including neuromuscular symptoms, and ocular and auditory involvement.…”

Section: Discussionsupporting

confidence: 88%

“…Heterozygous de novo variants in DHX16 have been connected to NMOAS but to our knowledge, no functional data from patient-derived samples has been published. 4,8 Immunoblotting showed a statistically significant decrease in DHX16 The CHRNB2 variants have previously been associated ENFL3, but our patient did not present with any recognizable seizures. 6 CHRNB2 is widely found in the brain and eyes but its expression in skin and muscle is very low according to Human Protein Atlas.…”

Section: Discussionmentioning

confidence: 46%

“…Neither of these variants has previously been associated with mtDNA depletion. Heterozygous de novo variants in DHX16 have been connected to NMOAS but to our knowledge, no functional data from patient‐derived samples has been published 4,8 . Immunoblotting showed a statistically significant decrease in DHX16 protein expression, and the clinical phenotype resembled previously published patients with NMOAS syndrome.…”

Section: Discussionmentioning

confidence: 53%

“…(C) Sequence alignment of DHX16 homologs reveals that the gene is highly conserved between different species. (D) Protein schematic representation of DHX16 (Uniprot ID: O60231) showing known functional domains and previously published pathogenic DHX16 variants together with p.Arg454Trp (highlighted) 3,4,8 . Functional domains have been named as follows.…”

Section: Resultsmentioning

confidence: 99%

“…11 Only recently, Paine et al described four patients with DHX16 variants associated with the disease of NMOAS and de novo heterozygous variants that resided within established functional domains of the protein 4. In 2022, Archana et al reported a fifth patient with a dominant DHX16 variant 8. All the published patients presented with developmental delay, hypotonia, muscle weakness, retinopathy, and hearing loss (Table…”

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confidence: 99%

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

Hautakangas,

Widgren,

Korpelainen

et al. 2023

Clinical Genetics

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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.

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Section: Discussionsupporting

confidence: 88%

Section: Discussionmentioning

confidence: 46%

Section: Discussionmentioning

confidence: 53%

Section: Resultsmentioning

confidence: 99%

mentioning

confidence: 99%

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

Hautakangas,

Widgren,

Korpelainen

et al. 2023

Clinical Genetics

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Expansion of the phenotypic spectrum associated with pathogenic missense variation in DHX16

Drackley,

De Simone,

Kuntz

et al. 2023

American J of Med Genetics Pt A

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Pathogenic heterozygous variants in DHX16 have been recently identified in association with a variety of clinical features, including neuromuscular disease, sensorineural hearing loss, ocular anomalies, and other phenotypes. All DHX16 disease‐causing variants previously reported in affected individuals are missense in nature, nearly all of which were found to be de novo. Here we report on a patient with neuromuscular disease, hearing loss, retinal degeneration, and previously unreported phenotypic features including mitochondrial deficiency and primary ovarian insufficiency, in whom a novel de novo likely pathogenic variant in DHX16 NM_003587.4:c.2033A > G (p.Glu678Gly) was identified. Furthermore, we conducted an in‐depth literature review of DHX16's role in disease and utilized high‐performing in silico prediction algorithms to compare and contrast the predicted effects of all reported disease‐associated DHX16 variants on protein structure and function.

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A Rare Case of Neuromuscular Oculoauditory Syndrome

Cited by 2 publications

References 4 publications

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

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

Expansion of the phenotypic spectrum associated with pathogenic missense variation in DHX16

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