Functional hemizygosity of PAFAH1B3 due to a PAFAH1B3-CLK2 fusion gene in a female with mental retardation, ataxia and atrophy of the brain.

@article{Nothwang2001FunctionalHO,
  title={Functional hemizygosity of PAFAH1B3 due to a PAFAH1B3-CLK2 fusion gene in a female with mental retardation, ataxia and atrophy of the brain.},
  author={Hans Gerd Nothwang and Hyon Gyu Kim and Jun-ya Aoki and Margit Geisterfer and Sabine Kuebart and Rolf Dieter Wegner and A van Moers and Linda K. Ashworth and Thomas Haaf and Jeanne Bell and Hiroyuki Arai and Niels Tommerup and Hans Hilger Ropers and J{\'e}r{\^o}me Wirth},
  journal={Human molecular genetics},
  year={2001},
  volume={10 8},
  pages={
          797-806
        }
}
We report on the molecular characterization of a translocation t(1;19)(q21.3;q13.2) in a female with mental retardation, ataxia and atrophy of the brain. Sequence analysis of the breakpoints revealed an ALU:-repeat-mediated mechanism of recombination that led to truncation of two genes: the kinase CLK2 and PAFAH1B3, the gene product of which interacts with LIS1 as part of a heterotrimeric G protein complex PAF-AH1B. In addition, two reciprocal fusion genes are present. One expressed fusion gene… CONTINUE READING

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