Journal article
Novel pathogenic COX20 variants causing dysarthria, ataxia, and sensory neuropathy
Annals of clinical and translational neurology, Vol.6(1), pp.154-160
01/2019
DOI: 10.1002/acn3.661
PMCID: PMC6331954
PMID: 30656193
Abstract
COX20/FAM36A encodes a mitochondrial complex IV assembly factor important for COX2 activation. Only one homozygous COX20 missense mutation has been previously described in two separate consanguineous families. We report four subjects with features that include childhood hypotonia, areflexia, ataxia, dysarthria, dystonia, and sensory neuropathy. Exome sequencing in all four subjects identified the same novel COX20 variants. One variant affected the splice donor site of intron-one (c.41A>G), while the other variant (c.157+3G>C) affected the splice donor site of intron-two. cDNA and protein analysis indicated that no full-length cDNA or protein was generated. These subjects expand the phenotype associated with COX20 deficiency.
Details
- Title: Subtitle
- Novel pathogenic COX20 variants causing dysarthria, ataxia, and sensory neuropathy
- Creators
- Maria G Otero - Board of Governors Regenerative Medicine Institute Cedars-Sinai Medical Center Los Angeles CaliforniaEmmanuelle Tiongson - Division of Neurology Children's Hospital of Los Angeles Los Angeles CaliforniaFrank Diaz - Department of Neurology Cedars-Sinai Medical Center Los Angeles CaliforniaKatrina Haude - GeneDx Gaithersburg MarylandKarin Panzer - Department of Pediatrics University of Iowa Stead Family Children's Hospital Iowa City IowaAshley Collier - Provincial Medical Genetics Program Eastern Health St. John's Newfoundland and Labrador CanadaJaemin Kim - Board of Governors Regenerative Medicine Institute Cedars-Sinai Medical Center Los Angeles CaliforniaDavid Adams - Office of the Clinical Director NHGRI, NIH Bethesda MarylandCynthia J Tifft - Office of the Clinical Director NHGRI, NIH Bethesda MarylandHong Cui - GeneDx Gaithersburg MarylandFrancisca Millian Zamora - GeneDx Gaithersburg MarylandMargaret G Au - Department of Pediatrics Cedars-Sinai Medical Center Los Angeles CaliforniaJohn M Graham Jr - Department of Pediatrics Cedars-Sinai Medical Center Los Angeles CaliforniaDavid J Buckley - Department of Pediatrics Janeway Health Centre St. John's Newfoundland and Labrador CanadaRichard Lewis - Department of Neurology Cedars-Sinai Medical Center Los Angeles CaliforniaCamilo Toro - Office of the Clinical Director NHGRI, NIH Bethesda MarylandRenkui Bai - GeneDx Gaithersburg MarylandLesley Turner - Faculty of Medicine Memorial University of Newfoundland St. John's Newfoundland CanadaKatherine D Mathews - University of Iowa, Stead Family Department of PediatricsWilliam Gahl - Office of the Clinical Director NHGRI, NIH Bethesda MarylandTyler Mark Pierson - Department of Pediatrics Cedars-Sinai Medical Center Los Angeles California
- Resource Type
- Journal article
- Publication Details
- Annals of clinical and translational neurology, Vol.6(1), pp.154-160
- DOI
- 10.1002/acn3.661
- PMID
- 30656193
- PMCID
- PMC6331954
- NLM abbreviation
- Ann Clin Transl Neurol
- ISSN
- 2328-9503
- eISSN
- 2328-9503
- Grant note
- U54 NS053672 / NINDS NIH HHS
- Language
- English
- Date published
- 01/2019
- Academic Unit
- Neurology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Neurology (Pediatrics)
- Record Identifier
- 9984071995102771
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