Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome.

@article{Brancati2010MutationsIP,
  title={Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome.},
  author={Francesco Brancati and Paola Fortugno and Irene Bottillo and Marc Lopez and Emmanuelle Josselin and Omar Boudghene-Stambouli and Emanuele Agolini and Laura Bernardini and Emanuele Bellacchio and Miriam Iannicelli and Alfredo Francesco Rossi and Amina Dib-Lachachi and Liborio Stuppia and Giandomenico Palka and Stefan Mundlos and Sigmar Stricker and Uwe Kornak and G. M. Zambruno and Bruno Dallapiccola},
  journal={American journal of human genetics},
  year={2010},
  volume={87 2},
  pages={265-73}
}
Ectodermal dysplasias form a large disease family with more than 200 members. The combination of hair and tooth abnormalities, alopecia, and cutaneous syndactyly is characteristic of ectodermal dysplasia-syndactyly syndrome (EDSS). We used a homozygosity mapping approach to map the EDSS locus to 1q23 in a consanguineous Algerian family. By candidate gene analysis, we identified a homozygous mutation in the PVRL4 gene that not only evoked an amino acid change but also led to exon skipping. In an… CONTINUE READING