Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis-van Creveld syndrome with borderline intelligence.

@article{Temtamy2008LongIN,
  title={Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis-van Creveld syndrome with borderline intelligence.},
  author={Samia Ali Temtamy and Mona S. Aglan and Mar{\'i}a de la Luz Valencia and Guido Cocchi and Mar{\'i}a Isabel Pacheco and Adel M Ashour and Khalda Said Amr and Sanaa M H Helmy and Mona A. El-Gammal and Michael Scott Wright and P Lapunzina and Judith A. Goodship and Victor L. Ruiz-P{\'e}rez},
  journal={Human mutation},
  year={2008},
  volume={29 7},
  pages={931-8}
}
Previous work has shown Ellis-van Creveld (EvC) patients with mutations either in both alleles of EVC or in both alleles of EVC2. We now report affected individuals with the two genes inactivated on each allele. In a consanguineous pedigree diagnosed with EvC and borderline intelligence, we detected a 520-kb homozygous deletion comprising EVC, EVC2, C4orf6, and STK32B, caused by recombination between long interspersed nuclear element-1 (LINE-1 or L1) elements. Patients homozygous for the… CONTINUE READING