Researchers have identified a genetic mutation responsible for particularly severe cases of Fanconi’s anaemia.
Babies conceived with the mutation are unlikely to survive beyond a few days, two research teams have found.
The Journal of Clinical Investigation has now published simultaneous reports, led by teams from the USA and Germany, of the linking of the gene known as FAAP100 to Fanconi’s anaemia.
The researchers hope the discovery may lead to screening programmes for affected families, who may suffer repeated miscarriages.
Scientists at Rockefeller University, New York, USA, say that FAAP100 (now known as FANCX) is involved in the DNA repair pathway which causes the disease when it fails. They noted, however, that they had previously never seen patients in which the gene was mutated.
They finally discovered the mutation when they encountered a family that had suffered multiple miscarriages and then had a new-born baby with severe life-limiting developmental abnormalities. Laboratory studies showed that the new-born was missing the FANCX protein - and that the Fanconi anaemia DNA repair pathway was unable to operate.
A few months earlier, researchers at the University of Würzburg, Germany, announced finding mutations in the same gene in samples from a foetus.
Researcher Agata Smogorzewska, from Rockefeller, said: “Without this protein, it’s unlikely the foetus will survive. If we begin to look for FANCX mutations in families with a lot of miscarriages, I suspect we’ll begin to discover many more parents who are carriers.
“We may soon be able to help families that carry these mutations prevent Fanconi anaemia in future pregnancies. We now know what we’re looking for.”
Source:
Harrison BA, Mizrahi-Powell E, Pappas J, Thomas K, Vasishta S, Hebbar S, Shukla A, Nayak SS, Truong TK, Woroch A, Kharbutli Y, Gelb BD, Mintz CS, Evrony GD, Smogorzewska A. (2025) “Deficiency of the Fanconi anemia core complex protein FAAP100 results in severe Fanconi anemia.” Journal of Clinical Investigation, 17 April 2025, doi: 10.1172/JCI185126.
Link: https://www.jci.org/articles/view/185126
Kuehl J, Xue Y, Yuan F, Ramanagoudr-Bhojappa R, Pickel S, Kalb R, Chandrasekharappa SC, Wang W, Zhang Y, Schindler D. (2025) “Genetic inactivation of FAAP100 causes Fanconi anemia due to disruption of the monoubiquitin ligase core complex.” Journal of Clinical Investigation, 15 Apr 2025, doi: 10.1172/JCI187323.
Link: https://www.jci.org/articles/view/187323
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