Novel TMEM67 Mutations and Genotype-phenotype Correlates in Meckelin-related Ciliopathies
- Iannicelli, Miriam
- Brancati, Francesco
- Mougou Zerelli, Soumaya
- Mazzotta, Annalisa
- Thomas, Sophie
- Elkhartoufi, Nadia
- Travaglini, Lorena
- Gomes, Celine
- Ardissino, Gian Luigi
- Bertini, Enrico
- Boltshauser, Eugen
- Castorina, Pierangela
- D'Arrigo, Stefano
- Fischetto, Rita
- Leroy, Brigitte
- Loget, Philippe
- Bonniere, Maryse
- Starck, Lena
- Tantau, Julia
- Gentilin, Barbara
- Majore, Silvia
- Swistun, Dominika
- Flori, Elizabeth
- Lalatta, Faustina
- Pantaleoni, Chiara
- Penzien, Johannes
- Grammatico, Paola
- Dallapiccola, Bruno
- Gleeson, Joseph G.
- Attie Bitach, Tania
- Ali Pacha, L.
- Tazir, M.
- Zankl, A.
- Leventer, R.
- Grattan Smith, P.
- Janecke, A.
- D'Hooghe, M.
- Sznajer, Y.
- Van Coster, R.
- Demerleir, L.
- Dias, K.
- Moco, C.
- Moreira, A.
- Ae Kim, C.
- Maegawa, G.
- Loncarevic, D.
- Mejaski Bosnjak, V.
- Petkovic, D.
- Abdel Salam, G.M.
- Abdel Aleem, A.
- Zaki, M.S.
- Marti, I.
- Quijano Roy, S.
- Sigaudy, S.
- de Lonlay, P.
- Romano, S.
- Verloes, A.
- Touraine, R.
- Koenig, M.
- Lagier Tourenne, C.
- Messer, J.
- Collignon, P.
- Wolf, N.
- Philippi, H.
- Lemke, J.
- Dacou Voutetakis, C.
- Kitsiou Tzeli, S.
- Pons, R.
- Sztriha, L.
- Halldorsson, S.
- Johannsdottir, J.
- Ludvigsson, P.
- Phadke, S.R.
- Udani, V.
- Stuart, B.
- Magee, A.
- Lev, D.
- Michelson, M.
- Ben Zeev, B.
- Di Giacomo, M.
- Gentile, M.
- Guanti, G.
- D'Addato, O.
- Papadia, F.
- Spano, M.
- Bernardi, F.
- Seri, M.
- Benedicenti, F.
- Stanzial, F.
- Borgatti, R.
- Accorsi, P.
- Battaglia, S.
- Fazzi, E.
- Giordano, L.
- Izzi, C.
- Pinelli, L.
- Boccone, L.
- Guanciali, P.
- Romoli, R.
- Bigoni, S.
- Ferlini, A.
- Andreucci, E.
- Donati, M.A.
- Genuardi, M.
- Caridi, G.
- Divizia, M.T.
- Faravelli, F.
- Ghiggeri, G.
- Pessagno, A.
- Amorini, M.
- Briguglio, M.
- Briuglia, S.
- Rigoli, L.
- Salpietro, C.
- Tortorella, G.
- Adami, A.
- Marra, G.
- Riva, D.
- Scelsa, B.
- Spaccini, L.
- Uziel, G.
- Coppola, G.
- Del Giudice, E.
- Vitiello, G.
- Laverda, A.M.
- Ludwig, K.
- Permunian, A.
- Suppiej, A.
- Macaluso, C.
- Signorini, S.
- Uggetti, C.
- Battini, R.
- Di Giacomo, M.
- Priolo, M.
- Cilio, M.R.
- D'Amico, A.
- Di Sabato, M.L.
- Emma, F.
- Leuzzi, V.
- Parisi, P.
- Stringini, G.
- Zanni, G.
- Pollazzon, M.
- Renieri, A.
- Vascotto, M.
- Silengo, M.
- De Vescovi, R.
- Greco, D.
- Romano, C.
- Cazzagon, M.
- Simonati, A.
- Al Tawari, A.A.
- Bastaki, L.
- Mégarbané, A.
- Matuleviciene, A.
- Sabolic Avramovska, V.
- Said, E.
- de Jong, M.M.
- Prescott, T.
- Stromme, P.
- von der Lippe, C.
- Koul, R.
- Rajab, A.
- Azam, M.
- Barbot, C.
- Jocic Jakubi, B.
- Gener Querol, B.
- Martorell Sampol, L.
- Rodriguez, B.
- Pascual Castroviejo, I.
- Strozzi, S.
- Fluss, J.
- Teber, S.
- Topcu, M.
- Anlar, B.
- Comu, S.
- Karaca, E.
- Kayserili, H.
- Yüksel, A.
- Akgul, M.
- Akcakus, M.
- Al Gazali, L.
- Nicholl, D.
- Woods, C.G.
- Bennett, C.
- Hurst, J.
- Sheridan, E.
- Barnicoat, A.
- Carr, L.
- Hennekam, R.
- Lees, M.
- McKay, F.
- Yates, L.
- Blair, E.
- Bernes, S.
- Sanchez, H.
- Clark, A.E.
- DeMarco, E.
- Donahue, C.
- Sherr, E.
- Hahn, J.
- Sanger, T.D.
- Gallager, T.E.
- Dobyns, W.B.
- Daugherty, C.
- Krishnamoorthy, K.S.
- Sarco, D.
- Walsh, C.A.
- McKanna, T.
- Milisa, J.
- Cjung, W.K.
- De Vivo, D.C.
- Raynes, H.
- Schubert, R.
- Seward, A.
- Brooks, D.G.
- Goldstein, A.
- Caldwell, J.
- Finsecke, E.
- Maria, B.L.
- Holden, K.
- Cruse, R.P.
- Swoboda, K.J.
- Viskochil, D.
- VALENTE, ENZA MARIA
DOIAbstract
Human ciliopathies are hereditary conditions caused by defects of proteins expressed at the primary cilium. Among ciliopathies, Joubert syndrome and related disorders (JSRD), Meckel syndrome (MKS) and nephronophthisis (NPH) present clinical and genetic overlap, being allelic at several loci. One of the most interesting gene is TMEM67, encoding the transmembrane protein meckelin. We performed mutation analysis of TMEM67 in 341 probands, including 265 JSRD representative of all clinical subgroups and 76 MKS fetuses. We identified 33 distinct mutations, of which 20 were novel, in 8/10 (80%) JS with liver involvement (COACH phenotype) and 12/76 (16%) MKS fetuses. No mutations were found in other JSRD subtypes, confirming the strong association ...
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