TY - JOUR
T1 - Manitoba aboriginal kindred with original cerebro-oculo-facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene
AU - Meira, Lisiane B.
AU - Graham, John M.
AU - Greenberg, Cheryl R.
AU - Busch, David B.
AU - Doughty, Ana T B
AU - Ziffer, Deborah W.
AU - Coleman, Donna M.
AU - Savre-Train, Isabelle
AU - Friedberg, Errol C.
N1 - Funding Information:
We thank our laboratory colleagues for valuable discussions and for critical review of the manuscript, and Lisa McDaniel for providing cell lines GM1604 and Tel1604. We acknowledge support by SHARE's Child Disability Center and the Steven Spielberg Pediatric Research Center; University of California–Los Angeles Intercampus Training Program grant GM08243 from the National Institutes of Health; grants P01 HD22657-06 (J.M.G.) and CA44247 (E.C.F.) from the U.S. Department of Health and Human Services; and the American Registry of Pathology, Armed Forces Institute of Pathology.
PY - 2000
Y1 - 2000
N2 - 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.
AB - 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.
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U2 - 10.1086/302867
DO - 10.1086/302867
M3 - Article
C2 - 10739753
AN - SCOPUS:0033912653
SN - 0002-9297
VL - 66
SP - 1221
EP - 1228
JO - American Journal of Human Genetics
JF - American Journal of Human Genetics
IS - 4
ER -