Article
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.
Nature genetics - 1 Jul 2010
Valente Enza Maria, Logan Clare V, Mougou-Zerelli Soumaya, Lee Jeong Ho, Silhavy Jennifer L, Brancati Francesco, Iannicelli Miriam, Travaglini Lorena, Romani Sveva, Illi Barbara, Adams Matthew, Szymanska Katarzyna, Mazzotta Annalisa, Lee Ji Eun, Tolentino Jerlyn C, Swistun Dominika, Salpietro Carmelo D, Fede Carmelo, Gabriel Stacey, Russ Carsten, Cibulskis Kristian, Sougnez Carrie, Hildebrandt Friedhelm, Otto Edgar A, Held Susanne, Diplas Bill H, Davis Erica E, Mikula Mario, Strom Charles M, Ben-Zeev Bruria, Lev Dorit, Sagie Tally Lerman, Michelson Marina, Yaron Yuval, Krause Amanda, Boltshauser Eugen, Elkhartoufi Nadia, Roume Joelle, Shalev Stavit, Munnich Arnold, Saunier Sophie, Inglehearn Chris, Saad Ali, Alkindy Adila, Thomas Sophie, Vekemans Michel, Dallapiccola Bruno, Katsanis Nicholas, Johnson Colin A, Attié-Bitach Tania, Gleeson Joseph G
Abstract excerpt
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 conformed to the oro-facio-digital type VI phenotype,...
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