Manitoba aboriginal kindred with original cerebro-oculo-facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene

Lisiane B. Meira, John M. Graham, Cheryl R. Greenberg, David B. Busch, Ana T B Doughty, Deborah W. Ziffer, Donna M. Coleman, Isabelle Savre-Train, Errol C. Friedberg

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Abstract

Cerebro-oculo-facio-skeletal (COFS) syndrome is a rapidly progressive neurological disorder leading to brain atrophy with calcification, cataracts, microcornea, optic atrophy, progressive joint contractures, and growth failure. Cockayne syndrome (CS) is a recessively inherited neurodegenerative disorder characterized by low-to-normal birth weight; growth failure; brain dysmyelination with calcium deposits; cutaneous photosensitivity; pigmentary retinopathy, cataracts, or both; and sensorineural hearing loss. CS cells are hypersensitive to UV radiation because of impaired nucleotide excision repair of UV radiation-induced damage in actively transcribed DNA. The abnormalities in CS are associated with mutations in the CSA or CSB genes. In this report, we present evidence that two probands related to the Manitoba Aboriginal population group within which COFS syndrome was originally reported have cellular phenotypes indistinguishable from those in CS cells. The identical mutation was detected in the CSB gene from both children with COFS syndrome and in both parents of one of the patients. This mutation was also detected in three other patients with COFS syndrome from the Manitoba Aboriginal population group. These results suggest that CS and COFS syndrome share a common pathogenesis.

Original languageEnglish (US)
Pages (from-to)1221-1228
Number of pages8
JournalAmerican Journal of Human Genetics
Volume66
Issue number4
DOIs
StatePublished - Jan 1 2000

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ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Meira, L. B., Graham, J. M., Greenberg, C. R., Busch, D. B., Doughty, A. T. B., Ziffer, D. W., Coleman, D. M., Savre-Train, I., & Friedberg, E. C. (2000). Manitoba aboriginal kindred with original cerebro-oculo-facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene. American Journal of Human Genetics, 66(4), 1221-1228. https://doi.org/10.1086/302867