Cockayne's syndrome: correlation of clinical features with cellular sensitivity of RNA synthesis to UV irradiation.
نویسندگان
چکیده
Cockayne's syndrome (CS) is a rare autosomal recessive disorder with dwarfism, mental retardation, and otherwise clinically heterogeneous features. In cultured CS fibroblasts, the failure of RNA synthesis to recover to normal rates after UV-C irradiation provides a useful and relatively simple diagnostic test. We have measured post-UV-C RNA synthesis in 52 patients for whom a clinical diagnosis of CS was considered a possibility. Twenty-nine patients showed the defect characteristic of CS cells, and 23 had a normal response. We have attempted to correlate the cellular diagnosis with the different clinical features of the disorder. Clinical details of the patients were obtained from referring clinicians in the form of a questionnaire. Our results show that, apart from the cardinal features of dwarfism and mental retardation, sun sensitivity correlated best with a positive cellular diagnosis. Pigmentary retinopathy, gait defects, and dental caries were also good positive indicators, although several patients with a positive cellular diagnosis did not have these features.
منابع مشابه
Failure of RNA synthesis to recover after UV irradiation: an early defect in cells from individuals with Cockayne's syndrome and xeroderma pigmentosum.
Previous work has shown that in cells from the ultraviolet-sensitive genetic disorder, Cockayne's syndrome, DNA synthesis fails to recover after ultraviolet irradiation, despite the fact that these cells have no detectable defect in either excision or daughter-strand repair pathways. We now show that Cockayne cells, as well as cells from a number of patients with xeroderma pigmentosum, are sens...
متن کاملFailure of RNA Synthesis to Recover after UV Irradiation: An Early Defect in Cells from Individuals with Cockayne's Syndrome and Xeroderma Pigmentosum1
Previous work has shown that in cells from the ultravioletsensitive genetic disorder, Cockayne's syndrome, DNA synthe sis fails to recover after ultraviolet irradiation, despite the fact that these cells have no detectable defect in either excision or daughter-strand repair pathways. We now show that Cockayne cells, as well as cells from a number of patients with xeroderma pigmentosum, are sens...
متن کاملSyndrome and Xeroderma Pigmentosum Early Defect in Cells from Individuals with Cockayne's Failure of RNA Synthesis to Recover after UV Irradiation: An Updated Version
Previous work has shown that in cells from the ultravioletsensitive genetic disorder, Cockayne's syndrome, DNA synthe sis fails to recover after ultraviolet irradiation, despite the fact that these cells have no detectable defect in either excision or daughter-strand repair pathways. We now show that Cockayne cells, as well as cells from a number of patients with xeroderma pigmentosum, are sens...
متن کاملEarly onset Cockayne's syndrome: case reports with neuropathological and fibroblast studies.
Two patients with early onset Cockayne's syndrome are presented. In each case there was a striking failure of growth and developmental deterioration around six months of age. It has been suggested that early onset Cockayne's syndrome is a syndrome distinct from Cockayne's syndrome, but when the first patient died aged two years 10 months, examination of the brain showed a leucodystrohy with 'ti...
متن کاملA clinical study of a family with Cockayne's syndrome.
SUMMARY Two sibs with Cockayne's syndrome are described. The recognised cellular sensitivity to ultraviolet light is confirmed. The clinical features in the two children are described and comparisons are made with some forms of xeroderma pigmentosum, a condition in which there is progressive neurological degeneration and cellular sensitivity to ultraviolet irradiation. In 1936 Cockaynel describ...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 30 8 شماره
صفحات -
تاریخ انتشار 1993