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Am J Med Genet A. 2004 Jul 1;128A(1):67-71.

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

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Department of Aging Medicine and Geriatrics, Institute on Aging and Adaptation, Division of Medicine, Shinshu University Graduate School, 3-1-1 Asahi, Matsumoto, Nagano 390-8621, Japan.


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 proband with CS. Multiple abnormal splicing variant forms were revealed in all cases. No mutation was found in the sequences of the splice donor and acceptor sites of each exon in the CSA gene. UVA irradiation suppressed cell growth in the proband. There was no significant alteration of UVA sensitivity among the normal control and the family members except for the proband. These data suggest that multiple splicing variant forms of CSA mRNA, in the absence of the full-length form of the mRNA, are associated with CS.

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