Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

@inproceedings{Valente2010MutationsIT,
  title={Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes},
  author={Enza Maria Valente and Clare V Logan and Soumaya Mougou-Zerelli and Jeong Ho Lee and Jennifer L. Silhavy and Francesco Brancati and Miriam Iannicelli and Lorena Travaglini and Sveva Romani and Barbara Illi and Matthew R. Adams and Katarzyna M. Szymańska and Annalisa Mazzotta and Ji Eun Lee and Jerlyn C. Tolentino and Dominika Swistun and Carmelo Damiano Salpietro and Carmelo Fede and Stacey Bolk Gabriel and Carsten Russ and Kristian Cibulskis and Carrie L. Sougnez and Friedhelm Hildebrandt and Edgar A. Otto and Susanne Held and Bill H Diplas and Erica E Davis and Mario Mikula and Charles M. Strom and Bruria Ben-Ze’ev and Dorit Lev and Tally Lerman Sagie and Marina Michelson and Yuval Yaron and Amanda Krause and Eugen Boltshauser and Nadia Elkhartoufi and Joelle Roume and Stavit Allon Shalev and Arnold Munnich and Sophie Saunier and Chris F. Inglehearn and Ali Kandil Saad and Adila Alkindy and Sophie Thomas and Michel Vekemans and Bruno Dallapiccola and Nicholas Katsanis and Colin A. Johnson and Tania Atti{\'e}-Bitach and Joseph G Gleeson},
  booktitle={Nature Genetics},
  year={2010}
}
Joubert syndrome (JBTS), related disorders (JSRDs) and Meckel syndrome (MKS) are ciliopathies. We now report that MKS2 and CORS2 (JBTS2) loci are allelic and caused by mutations in TMEM216, which encodes an uncharacterized tetraspan transmembrane protein. Individuals with CORS2 frequently had nephronophthisis and polydactyly, and two affected individuals… CONTINUE READING