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

Research output: Contribution to journalArticle

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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 - 2000

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Cockayne Syndrome
Manitoba
Mutation
Genes
Population Groups
Cataract
Radiation
Optic Atrophy
Retinitis Pigmentosa
Sensorineural Hearing Loss
Brain
Contracture
Growth
Nervous System Diseases
Birth Weight
DNA Repair
Neurodegenerative Diseases
Atrophy
Joints
Parents

ASJC Scopus subject areas

  • Genetics

Cite this

Manitoba aboriginal kindred with original cerebro-oculo-facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene. / Meira, Lisiane B.; Graham, John M.; Greenberg, Cheryl R.; Busch, David B.; Doughty, Ana T B; Ziffer, Deborah W.; Coleman, Donna M.; Savre-Train, Isabelle; Friedberg, Errol C.

In: American Journal of Human Genetics, Vol. 66, No. 4, 2000, p. 1221-1228.

Research output: Contribution to journalArticle

Meira, LB, Graham, JM, Greenberg, CR, Busch, DB, Doughty, ATB, Ziffer, DW, Coleman, DM, Savre-Train, I & Friedberg, EC 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, vol. 66, no. 4, pp. 1221-1228. https://doi.org/10.1086/302867
Meira, Lisiane B. ; Graham, John M. ; Greenberg, Cheryl R. ; Busch, David B. ; Doughty, Ana T B ; Ziffer, Deborah W. ; Coleman, Donna M. ; Savre-Train, Isabelle ; Friedberg, Errol C. / Manitoba aboriginal kindred with original cerebro-oculo-facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene. In: American Journal of Human Genetics. 2000 ; Vol. 66, No. 4. pp. 1221-1228.
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