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Tuesday 16 December 2003

The ATP-dependent DNA helicase Q4 (RECQL4) belongs to a family of conserved RECQ helicases that are felt to be important in maintaining chromosomal integrity.

Deletions in the RECQL4 gene located on chromosome 8 region q24.3 have been associated with Rothmund-Thomson syndrome (MIM.268400), a condition characterized by poikiloderma, sparse hair, small stature, skeletal abnormalities, cataracts and an increased risk of malignancy.


- germline mutations of RECQL4 in

  • Rothmund-Thomson syndrome (RTS) (MIM.268400)
  • RAPADILINO syndrome with radial aplasia/hypoplasia (MIM.266280)

RECQL4 gene is mutated in some cases of Rothmund-Thomson syndrome (RTS) (MIM.268400). In this disorder, affected individuals show growth deficiency, photosensitivity with poikilodermatous skin changes, cataracts, early greying and loss of hair, as well as some increase in cancer incidence. As with Werner syndrome, the cancer predispositon in RTS individuals is of a limited range, mainly osteogenic sarcomas.

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