Fanconi’s Anaemia and Dyskeratosis Congenita as a Syndrome

Bodalski, Jerzy; Defecinska, E; Judkiewicz, L; Pacanowska, M

doi:10.1159/000254878

Cited by 22 publications

(7 citation statements)

References 11 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Furthermore, telomere dysfunction was reported for at least some patients with FA 28 60 , and cells from patients with DC appeared hypersensitive to MC in a few studies 56 61 . In fact, although DC and FA are distinct clinical disorders caused by mutations in different genes, their clinical similarities initially led to some confusion 62 63 64 65 , and recent evidence of misdiagnosis can still be found occasionally 66 . As mentioned above, because a defective FA pathway may activate p53 (ref.…”

Section: Discussionmentioning

confidence: 99%

p53 downregulates the Fanconi anaemia DNA repair pathway

Toufektchan¹,

Lejour²,

Bardot³

et al. 2016

Nat Commun

View full text Add to dashboard Cite

Germline mutations affecting telomere maintenance or DNA repair may, respectively, cause dyskeratosis congenita or Fanconi anaemia, two clinically related bone marrow failure syndromes. Mice expressing p53Δ31, a mutant p53 lacking the C terminus, model dyskeratosis congenita. Accordingly, the increased p53 activity in p53Δ31/Δ31 fibroblasts correlated with a decreased expression of 4 genes implicated in telomere syndromes. Here we show that these cells exhibit decreased mRNA levels for additional genes contributing to telomere metabolism, but also, surprisingly, for 12 genes mutated in Fanconi anaemia. Furthermore, p53Δ31/Δ31 fibroblasts exhibit a reduced capacity to repair DNA interstrand crosslinks, a typical feature of Fanconi anaemia cells. Importantly, the p53-dependent downregulation of Fanc genes is largely conserved in human cells. Defective DNA repair is known to activate p53, but our results indicate that, conversely, an increased p53 activity may attenuate the Fanconi anaemia DNA repair pathway, defining a positive regulatory feedback loop.

show abstract

Section: Discussionmentioning

confidence: 99%

p53 downregulates the Fanconi anaemia DNA repair pathway

Toufektchan¹,

Lejour²,

Bardot³

et al. 2016

Nat Commun

View full text Add to dashboard Cite

show abstract

“…In retrospect these findings are more suggestive of dyskeratosis congenita than Fanconi's anaemia. Several investigators suggested that Fanconi's anaemia and dyskeratosis congenita are probably related or are variants of the same disease, for which Bodalski et al (1963) proposed the name Fanconi-Zinsser syndrome. Steier et al (1972) felt that some of the case reports possibly represent 'transition cases' between dyskeratosis congenita and Fanconi's anaemia; however, they admitted this was quite conjectural.…”

mentioning

confidence: 99%

Dyskeratosis congenita: clinical features and genetic aspects. Report of a family and review of the literature.

Sirinavin¹,

Trowbridge²

1975

Journal of Medical Genetics

167

111

View full text Add to dashboard Cite

“…The clinical similarities between dyskeratosis congenita and Fanconi anemia have led to the suggestion that they are variants of the same disease, for which Bodalski et aI. (11) proposed the term Fanconi-Zinsser syndrome. Steier et al (12) thought that some of the reports possibly represented "transition cases" between the 2 disorders.…”

Section: Discussionmentioning

confidence: 99%