Fanconi anemia with sun-sensitivity caused by a Xeroderma pigmentosum-associated missense mutation in XPF.

Isabell PoppMaqsood PunekarNick TelfordStavros StivarosKate ChandlerMeenakshi MinnisAnna CastletonClaire HighamLouise HopewellD Gareth EvansAnja RaamsArjan F TheilStefan MeyerDetlev Schindler

Published in: BMC medical genetics (2018)

Patients with FA characteristics and UV sensitivity should be tested for mutations in XPF/ERCC4/FANCQ. The missense mutation p.Arg589Trp was previously detected in patients diagnosed with Xeroderma pigmentosum or Cockayne syndrome. Hence, phenotypic manifestations associated with this XPF/ERCC4/ FANCQ mutation are highly variable.

Keyphrases

end stage renal disease
chronic kidney disease
intellectual disability
newly diagnosed
ejection fraction
dna repair
prognostic factors
patient reported outcomes
iron deficiency
patient reported