A kindred with Cockayne syndrome caused by multiple splicing variants of the CSA gene

@article{Komatsu2004AKW,
  title={A kindred with Cockayne syndrome caused by multiple splicing variants of the CSA gene},
  author={Ai Komatsu and Satoru Suzuki and Takeshi Inagaki and Koh Yamashita and Kiyoshi Hashizume},
  journal={American Journal of Medical Genetics Part A},
  year={2004},
  volume={128A}
}
Cockayne syndrome (CS) is an autosomal recessive disorder, which is associated with abnormal UV hypersensitivity, growth retardation, and psycho‐neural abnormalities. Recently, CSA protein was found to be associated with CS. We obtained mRNAs from immortal lymphoblasts derived from members of the kindred, and sequenced the CSA gene of all family members after reverse transcription (RT) of the coding region. The intact length of the CSA transcript was found in all family members except the… 
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TLDR
The identification of a UVSS patient (UVSS1VI) with a novel mutation in the CSA gene that confers hypersensitivity to UV light, but not to inducers of oxidative damage that are notably cytotoxic in cells from CS patients implies that some mutations in the cDNA may interfere with the TC-NER-dependent removal of UV-induced damage without affecting its role in the oxidative stress response.
Síndrome de Cockayne: informe de dos casos clínicos y revisión de la literatura
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Two cases that were diagnosed solely on clinical bases and a review of the literature are reported in order to attract attention to Cockayne syndrome so that early diagnoses can be made in children with psychomotor development delay, premature aging and photosensitivity.
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