| Autor: |
Otero MG; Board of Governors Regenerative Medicine Institute Cedars-Sinai Medical Center Los Angeles California., Tiongson E; Division of Neurology Children's Hospital of Los Angeles Los Angeles California., Diaz F; Department of Neurology Cedars-Sinai Medical Center Los Angeles California., Haude K; GeneDx Gaithersburg Maryland., Panzer K; Department of Pediatrics University of Iowa Stead Family Children's Hospital Iowa City Iowa., Collier A; Provincial Medical Genetics Program Eastern Health St. John's Newfoundland and Labrador Canada., Kim J; Board of Governors Regenerative Medicine Institute Cedars-Sinai Medical Center Los Angeles California., Adams D; NIH Undiagnosed Diseases Program NIH Office of Rare Diseases Research and NHGRI Bethesda Maryland.; Office of the Clinical Director NHGRI, NIH Bethesda Maryland., Tifft CJ; NIH Undiagnosed Diseases Program NIH Office of Rare Diseases Research and NHGRI Bethesda Maryland.; Office of the Clinical Director NHGRI, NIH Bethesda Maryland., Cui H; GeneDx Gaithersburg Maryland., Millian Zamora F; GeneDx Gaithersburg Maryland., Au MG; Department of Pediatrics Cedars-Sinai Medical Center Los Angeles California., Graham JM Jr; Department of Pediatrics Cedars-Sinai Medical Center Los Angeles California., Buckley DJ; Department of Pediatrics Janeway Health Centre St. John's Newfoundland and Labrador Canada., Lewis R; Department of Neurology Cedars-Sinai Medical Center Los Angeles California., Toro C; NIH Undiagnosed Diseases Program NIH Office of Rare Diseases Research and NHGRI Bethesda Maryland.; Office of the Clinical Director NHGRI, NIH Bethesda Maryland., Bai R; GeneDx Gaithersburg Maryland., Turner L; Faculty of Medicine Memorial University of Newfoundland St. John's Newfoundland Canada., Mathews KD; Provincial Medical Genetics Program Eastern Health St. John's Newfoundland and Labrador Canada.; Department of Neurology University of Iowa Stead Family Children's Hospital Iowa City Iowa., Gahl W; NIH Undiagnosed Diseases Program NIH Office of Rare Diseases Research and NHGRI Bethesda Maryland.; Office of the Clinical Director NHGRI, NIH Bethesda Maryland., Pierson TM; Board of Governors Regenerative Medicine Institute Cedars-Sinai Medical Center Los Angeles California.; Department of Neurology Cedars-Sinai Medical Center Los Angeles California.; Department of Pediatrics Cedars-Sinai Medical Center Los Angeles California. |
| Abstrakt: |
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. |
