Novel pathogenic COX20 variants causing dysarthria, ataxia, and sensory neuropathy

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,...

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Published inAnnals of clinical and translational neurology Vol. 6; no. 1; pp. 154 - 160
Main Authors Otero, Maria G., Tiongson, Emmanuelle, Diaz, Frank, Haude, Katrina, Panzer, Karin, Collier, Ashley, Kim, Jaemin, Adams, David, Tifft, Cynthia J., Cui, Hong, Millian Zamora, Francisca, Au, Margaret G., Graham, John M., Buckley, David J., Lewis, Richard, Toro, Camilo, Bai, Renkui, Turner, Lesley, Mathews, Katherine D., Gahl, William, Pierson, Tyler Mark
Format Journal Article
LanguageEnglish
Published United States John Wiley and Sons Inc 01.01.2019
Subjects
Adolescent
Adult
Ataxia - genetics
Brief Communication
Brief Communications
Child
Dysarthria - genetics
Electron Transport Complex IV - genetics
Female
Hereditary Sensory and Autonomic Neuropathies - genetics
Humans
Male
Pedigree
Phenotype
Online AccessGet full text
ISSN2328-9503
2328-9503
DOI10.1002/acn3.661

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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.
AbstractList 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.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.
encodes a mitochondrial complex IV assembly factor important for COX2 activation. Only one homozygous 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 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.
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.
Author Graham, John M.
Tiongson, Emmanuelle
Bai, Renkui
Toro, Camilo
Turner, Lesley
Buckley, David J.
Panzer, Karin
Kim, Jaemin
Otero, Maria G.
Millian Zamora, Francisca
Cui, Hong
Au, Margaret G.
Gahl, William
Collier, Ashley
Mathews, Katherine D.
Pierson, Tyler Mark
Adams, David
Haude, Katrina
Diaz, Frank
Tifft, Cynthia J.
Lewis, Richard
AuthorAffiliation 5 Department of Pediatrics University of Iowa Stead Family Children's Hospital Iowa City Iowa
7 NIH Undiagnosed Diseases Program NIH Office of Rare Diseases Research and NHGRI Bethesda Maryland
11 Faculty of Medicine Memorial University of Newfoundland St. John's Newfoundland Canada
10 Department of Pediatrics Janeway Health Centre St. John's Newfoundland and Labrador Canada
3 Department of Neurology Cedars‐Sinai Medical Center Los Angeles California
1 Board of Governors Regenerative Medicine Institute Cedars‐Sinai Medical Center Los Angeles California
2 Division of Neurology Children's Hospital of Los Angeles Los Angeles California
8 Office of the Clinical Director NHGRI, NIH Bethesda Maryland
4 GeneDx Gaithersburg Maryland
12 Department of Neurology University of Iowa Stead Family Children's Hospital Iowa City Iowa
6 Provincial Medical Genetics Program Eastern Health St. John's Newfoundland and Labrador Canada
9 Department of Pediatrics Cedars‐Sinai Medical Center Los Angeles California
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Contributed equally to this work.
During this study D.A., C.J.T. & C.T. were supported by the National Institutes of Health Undiagnosed Diseases Network; W.A.G. was supported by the Intramural Research Program of the National Human Genome Research Institute of the National Institutes of Health. TMP was funded by Cedars‐Sinai Institutional funding program and the Cedars‐Sinai Diana and Steve Marienhoff Fashion Industries Guild Endowed Fellowship in Pediatric Neuromuscular Diseases.
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Snippet COX20/FAM36A encodes a mitochondrial complex IV assembly factor important for COX2 activation. Only one homozygous COX20 missense mutation has been previously...
encodes a mitochondrial complex IV assembly factor important for COX2 activation. Only one homozygous missense mutation has been previously described in two...
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SubjectTerms Adolescent
Adult
Ataxia - genetics
Brief Communication
Brief Communications
Child
Dysarthria - genetics
Electron Transport Complex IV - genetics
Female
Hereditary Sensory and Autonomic Neuropathies - genetics
Humans
Male
Pedigree
Phenotype
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Title Novel pathogenic COX20 variants causing dysarthria, ataxia, and sensory neuropathy
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