Clastogen-induced fragility may differentiate pancytopenia of congenital dyskeratosis from fanconi anaemia

Schneider, Anne-Theres; Mayer, U.; Gebhart, Erich; Harms, D.; Gromball, J.; Glöckel, U.; Beck, J. D.

doi:10.1007/bf00441811

Cited by 16 publications

(18 citation statements)

References 13 publications

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“…This theory is particularly attractive in the present case of DC. If, as many authors postulate, dyskeratosis congenita is a disorder of chromosomal instability [Schneider et al, 1988;Morrison, 1974;Burgdorf et al, 1977;Carter et al, 1979;Pai et al, 1989b;DeBauche et al, 1990;Dokal et al, 1992;Ning et al, 1992;Dokal and Luzzatto, 1994;Scappaticci et al, 1989], it might be speculated that an affected embryo may be particularly prone to postzygotic mutations.…”

Section: Discussionmentioning

confidence: 99%

“…Cytogenetic studies in peripheral blood lymphocytes have shown increased chromosomal breaks, rearrangements, and sister chromatid exchanges [Schneider et al, 1988;Morrison, 1974;Burgdorf et al, 1977;Aguilar-Martinez et al, 1988;Pai et al, 1989b;DeBauche et al, 1990]. However, these abnormalities have not been found in all of the cases [Scappaticci et al, 1989;Juneja et al, 1987;Womer et al, 1983;Connor and Teague, 1981;Gutman et al, 1978;Sirinavin and Trowbridge, 1975;Schroeder and Hofbauer, 1975;Inoue et al, 1973].…”

Section: Discussionmentioning

confidence: 99%

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Dyskeratosis congenita with linear areas of severe cutaneous involvement

et al. 1998

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Dyskeratosis congenita (DC) is a rare hereditary disorder of skin which may be associated with aplastic anemia. The pattern of inheritance is X-linked recessive in most instances, but autosomal dominant and autosomal recessive types have been documented. Reticulated hyperpigmentation usually is the first manifestation. The pigmentary changes may be limited to neck, upper chest, and proximal parts of the limbs initially but within affected areas the involvement is always diffuse. We report on a patient with typical diffuse cutaneous signs of dyskeratosis congenita superimposed with hyperpigmentation that was more pronounced along Blaschko's lines. To explain this phenomenon, we assume that the patient has the autosomal dominant type and that loss of heterozygosity occurred in a somatic cell giving rise to a population of cells that migrated along these lines during embryogenesis.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Dyskeratosis congenita with linear areas of severe cutaneous involvement

et al. 1998

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“…Burgdorf et al (1977) have reported on the only DC patient found so far with an exces sive frequency of SCEs in his lymphocytes. Schneider et al (1988) have recently reported on a patient with DC w'hose lymphocytes showed excessive chromosome breaks when treated with 4-nitroquinoline-l-oxide. We did not find such a response in SB's lymphocytes (data not shown).…”

Section: Discussionmentioning

confidence: 99%

Bleomycin hypersensitivity in dyskeratosis congenita fibroblasts, lymphocytes, and transformed lymphoblasts

Pai

Yan²,

DeBauche³

et al. 1989

Cytogenet Genome Res

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We studied the responses of several dyskeratosis congenita (DC) cell lines to the DNA strand-cleaving and base-damaging agent bleomycin. Fibroblasts, peripheral blood lymphocytes, and transformed lymphoblasts of six DC patients and an obligate DC heterozygote showed more chromatid breaks than did respective controls exposed to various concentrations of bleomycin during the G₂ phase of the cell cycle (P < 0.0001). Unsynchronized DC fibroblasts in culture also showed decreased survival, compared to normals, following bleomycin treatment. DC lymphocytes teated with bleomycin for the final 24 h of culture showed more chromatid- and chromosome-type damage than did normals (P < 0.0001) or G₀-treated DC lymphocytes. Spontaneous chromosome breakage was normal in all six DC cell lines. The ability to distinguish affected and heterozygous DC cells without spontaneous chromosome instability from normals on the basis of their bleomycin hypersensitivity provides a marker for future studies of the pathogenesis of this disorder.

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“…syndrome explains the corneal perforation, sicca syndrome and uveitis, first reported in this syndrome. [1,3,5,9]. Die Prognose ist ungünstig.…”

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confidence: 99%

“…Es wurden folgende Augensymptome beschrieben: Tränenpunktverwachsung, Tränenfluss, vesikuläre Konjunktivitis, Ektropium und Trichiasis, Glaskörperblutung, Katarakt, Augenhintergrundsveränderungen mit Cotton-wool-Herden und retinalen Blutungen [4,6,8,9].…”

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