A defect in the CLIP1 gene (CLIP-170) can cause autosomal recessive intellectual disability

@article{Larti2015ADI,
  title={A defect in the CLIP1 gene (CLIP-170) can cause autosomal recessive intellectual disability},
  author={Farzaneh Larti and K. Kahrizi and L. Musante and H. Hu and Elahe Papari and Z. Fattahi and N. Bazazzadegan and Z. Liu and M. Banan and M. Garshasbi and T. Wienker and H. Ropers and N. Galjart and H. Najmabadi},
  journal={European Journal of Human Genetics},
  year={2015},
  volume={23},
  pages={331-336}
}
In the context of a comprehensive research project, investigating novel autosomal recessive intellectual disability (ARID) genes, linkage analysis based on autozygosity mapping helped identify an intellectual disability locus on Chr.12q24, in an Iranian family (LOD score=3.7). Next-generation sequencing (NGS) following exon enrichment in this novel interval, detected a nonsense mutation (p.Q1010*) in the CLIP1 gene. CLIP1 encodes a member of microtubule (MT) plus-end tracking proteins, which… Expand
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