Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies

Human Mutation

Volumn 31, Issue 5, 2010, Pages

  Iannicelli, Miriam ^a   Brancati, Francesco ^a,b   Mougou Zerelli, Soumaya ^c   Mazzotta, Annalisa ^a   Thomas, Sophie ^c   Elkhartoufi, Nadia ^d   Travaglini, Lorena ^a   Gomes, Céline ^c   Ardissino, Gian Luigi ^e   Bertini, Enrico ^f   Boltshauser, Eugen ^g   Castorina, Pierangela ^e   D'Arrigo, Stefano ^h   Fischetto, Rita ⁱ   Leroy, Brigitte ^j   Loget, Philippe ^k   Bonnière, Maryse ^l   Starck, Lena ^m   Tantau, Julia ⁿ   Gentilin, Barbara ^e   Majore, Silvia ^o   Swistun, Dominika ^p   Flori, Elizabeth ^q   Lalatta, Faustina ^e   Pantaleoni, Chiara ^h   Penzien, Johannes ^r   Grammatico, Paola ^o   Dallapiccola, Bruno ^f   Gleeson, Joseph G ^p   Attie Bitach, Tania ^c,d   Valente, Enza Maria ^a,s   Ali Pacha, L ^t   Tazir, M ^t   Zankl, A ^t   Leventer, R ^t   Grattan Smith, P ^t   Janecke, A ^t   D'Hooghe, M ^t   Sznajer, Y ^t   Van Coster, R ^t   Demerleir, L ^t   Dias, K ^t   Moco, C ^t   Moreira, A ^t   Ae Kim, C ^t   Maegawa, G ^t   Loncarevic, D ^t   Mejaski Bosnjak, V ^t   Petkovic, D ^t   Abdel Salam, G M H ^t   Abdel Aleem, A ^t   Zaki, M S ^t   Marti, I ^t   Quijano Roy, S ^t   Sigaudy, S ^t   De Lonlay, P ^t   Romano, S ^t   Verloes, A ^t   Touraine, R ^t   Koenig, M ^t   Lagier Tourenne, C ^t   Messer, J ^t   Collignon, P ^t   Wolf, N ^t   Philippi, H ^t   Lemke, J ^t   Dacou Voutetakis, C ^t   Kitsiou Tzeli, S ^t   Pons, R ^t   Sztriha, L ^t   Halldorsson, S ^t   Johannsdottir, J ^t   Ludvigsson, P ^t   Phadke, S R ^t   Udani, V ^t   Stuart, B ^t   Magee, A ^t   Lev, D ^t   Michelson, M ^t   Ben Zeev, B ^t   Di Giacomo, M ^t,t   Gentile, M ^t   Guanti, G ^t   D'Addato, O ^t   Papadia, F ^t   Spano, M ^t   Bernardi, F ^t   Seri, M ^t   Benedicenti, F ^t   Stanzial, F ^t   Borgatti, R ^t   Accorsi, P ^t   Battaglia, S ^t   Fazzi, E ^t   Giordano, L ^t   Izzi, C ^t   Pinelli, L ^t   Boccone, L ^t   Guanciali, P ^t   Romoli, R ^t   Bigoni, S ^t   Ferlini, A ^t   Andreucci, E ^t   Donati, M A ^t   Genuardi, M ^t   Caridi, G ^t   Divizia, M T ^t   Faravelli, F ^t   Ghiggeri, G ^t   Pessagno, A ^t   Amorini, M ^t   Briguglio, M ^t   Briuglia, S ^t   Rigoli, L ^t   Salpietro, C ^t   Tortorella, G ^t   Adami, A ^t   Marra, G ^t   Riva, D ^t   Scelsa, B ^t   Spaccini, L ^t   Uziel, G ^t   Coppola, G ^t   Del Giudice, E ^t   Vitiello, G ^t   Laverda, A M ^t   Ludwig, K ^t   Permunian, A ^t   Suppiej, A ^t   Macaluso, C ^t   Signorini, S ^t   Uggetti, C ^t   Battini, R ^t   Priolo, M ^t   Cilio, M R ^t   D'Amico, A ^t   Di Sabato, M L ^t   Emma, F ^t   Leuzzi, V ^t   Parisi, P ^t   Stringini, G ^t   Zanni, G ^t   Pollazzon, M ^t   Renieri, A ^t   Vascotto, M ^t   Silengo, M ^t   De Vescovi, R ^t   Greco, D ^t   Romano, C ^t   Cazzagon, M ^t   Simonati, A ^t   Al Tawari, A A ^t   Bastaki, L ^t   Megarbane A ^t   Matuleviciene, A ^t   Sabolic Avramovska, V ^t   Said, E ^t   De Jong, M M ^t   Prescott, T ^t   Stromme, P ^t   Von Der Lippe, C ^t   Koul, R ^t   Rajab, A ^t   Azam, M ^t   Barbot, C ^t   Jocic Jakubi, B ^t   Gener Querol, B ^t   Martorell Sampol, L ^t   Rodriguez, B ^t   Pascual Castroviejo, I ^t   Strozzi, S ^t   Fluss, J ^t   Teber M, S ^t   Topcu, ^t   Anlar, B ^t   Comu, S ^t   Karaca, E ^t   Kayserili, H ^t   Yuksel A ^t   Akgul, M ^t   Akcakus, M ^t   Al Gazali, L ^t   Nicholl, D ^t   Woods, C G ^t   Bennett, C ^t   Hurst, J ^t   Sheridan, E ^t   Barnicoat, A ^t   Carr, L ^t   Hennekam, R ^t   Lees, M ^t   McKay, F ^t   Yates, L ^t   Blair, E ^t   Bernes, S ^t   Sanchez, H ^t   Clark, A E ^t   DeMarco, E ^t   Donahue, C ^t   Sherr, E ^t   Hahn, J ^t   Sanger, T D ^t   Gallager, T E ^t   Dobyns, W B ^t   Daugherty, C ^t   Krishnamoorthy, K S ^t   Sarco, D ^t   Walsh, C A ^t   McKanna, T ^t   Milisa, J ^t   Chung, W K ^t   De Vivo, D C ^t   Raynes, H ^t   Schubert, R ^t   Seward, A ^t   Brooks, D G ^t   Goldstein, A ^t   Caldwell, J ^t   Finsecke, E ^t   Maria, B L ^t   Holden, K ^t   Cruse, R P ^t   Swoboda, K J ^t   Viskochil, D ^t   more..

^a CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^b UNIVERSITY OF CHIETI   (Italy)

^c INSERM   (France)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

^e FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^f BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^g UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^h DEPARTMENT OF NEUROSURGERY   (Italy)

ⁱ POLICLINICO   (Italy)

^j CENTRE HOSPITALIER INTERCOMMUNAL   (France)

^k Cabinet d'Anatomie et Cytologie Pathologiques Richier   (France)

^l Anatomopathologie   (France)

^m SACHS CHILDREN S HOSPITAL   (Sweden)

ⁿ HÔPITAL SAINT VINCENT DE PAUL   (France)

^o SAPIENZA UNIVERSITY OF ROME   (Italy)

^p UNIVERSITY OF CALIFORNIA   (United States)

^q UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^r Children's Hospital   (Germany)

^s UNIVERSITY OF MESSINA   (Italy)

^t CSS Mendel Institute ^*

more..

Author keywords

COACH syndrome; Congenital hepatic fibrosis; Joubert syndrome; Meckel syndrome; MKS3; TMEM67

Indexed keywords

MECKELIN; MEMBRANE PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CEREBELLOOCULORENAL SYNDROME; DYSOSTOSIS; EXON; FEMALE; FETUS; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC CONSERVATION; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INFANT; INTRON; JOUBERT SYNDROME; KIDNEY DISEASE; LIVER DISEASE; MAJOR CLINICAL STUDY; MALE; MECKEL SYNDROME; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PRIORITY JOURNAL; RETINOPATHY; SPLICING DEFECT; TRUNCATING MUTATION;

ABNORMALITIES, MULTIPLE; DNA MUTATIONAL ANALYSIS; FEMALE; GENOTYPE; HUMANS; KIDNEY DISEASES, CYSTIC; LIVER CIRRHOSIS; MEMBRANE PROTEINS; MUTATION; PHENOTYPE; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 77951821478     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21239     Document Type: Article

References (25)

1. Baala L, Romano S, Khaddour R, Saunier S, Smith UM, Audollent S, Ozilou C, Faivre L, Laurent N, Foliguet B, Munnich A, Lyonnet S, Salomon R, Encha-Razavi F, Gubler MC, Boddaert N, de LP, Johnson CA, Vekemans M, Antignac C, Attie-Bitach T. 2007. The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. Am J Hum Genet 80:186-194. (Pubitemid 46055178)
2. Brancati F, Iannicelli M, Travaglini L, Mazzotta A, Bertini E, Boltshauser E, D'Arrigo S, Emma F, Fazzi E, Gallizzi R, Gentile M, Loncarevic D, Mejaski-Bosnjak V, Pantaleoni C, Rigoli L, Salpietro CD, Signorini S, Stringini GR, Verloes A, Zablocka D, The International JSRD Study Group, Dallapiccola B, Gleeson JG, Valente EM. 2009. MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. Hum Mutat 30:E432-E442.
3. Clotman F, Libbrecht L, Killingsworth MC, Loo CC, Roskams T, Lemaigre FP. 2008. Lack of cilia and differentiation defects in the liver of human foetuses with the Meckel syndrome. Liver Int 28:377-384. (Pubitemid 351279586)
4. Consugar MB, Kubly VJ, Lager DJ, Hommerding CJ, Wong WC, Bakker E, Gattone VH, Torres VE, Breuning MH, Harris PC. 2007. Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3. Hum Genet 121:591-599. (Pubitemid 46706070)
5. Cook SA, Collin GB, Bronson RT, Naggert JK, Liu DP, Akeson EC, Davisson MT. 2009. A mouse model for Meckel syndrome type 3. J Am Soc Nephrol 20:753-764.
6. Dawe HR, Smith UM, Cullinane AR, Gerrelli D, Cox P, Badano JL, Blair-Reid S, Sriram N, Katsanis N, ttie-Bitach T, Afford SC, Copp AJ, Kelly DA, Gull K, Johnson CA. 2007. The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. Hum Mol Genet 16:173-186.
7. Desmet VJ. 1992. Congenital diseases of intrahepatic bile ducts: variations on the theme "ductal plate malformation". Hepatology 16:1069-1083.
8. Doherty D, Parisi MA, Finn LS, Gunay-Aygun M, Al-Mateen M, Bates D, Clericuzio C, Demir H, Dorschner M, van Essen AJ, Gahl WA, Gentile M, Gorden NT, Hikida A, Knutzen D, Ozyurek H, Phelps I, Rosenthal P, Verloes A, Weigand H, Chance PF, Dobyns WB, Glass IA. 2009. Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). J Med Genet July 1 epub.
9. Gerdes JM, Davis EE, Katsanis N. 2009. The Vertebrate Primary Cilium in Development, Homeostasis, and Disease. Cell 137:32-45.
10. Gunay-Aygun M, Parisi MA, Doherty D, Tuchman M, Tsilou E, Kleiner DE, Huizing M, Turkbey B, Choyke P, Guay-Woodford L, Heller T, Szymanska K, Johnson CA, Glass I, Gahl WA. 2009. MKS3-Related Ciliopathy with Features of Autosomal Recessive Polycystic Kidney Disease, Nephronophthisis, and Joubert Syndrome. J Pediatr 155:386-392
11. Hildebrandt F, Zhou W. 2007. Nephronophthisis-associated ciliopathies. J Am Soc Nephrol 18:1855-1871.
12. Khaddour R, Smith U, Baala L, Martinovic J, Clavering D, Shaffiq R, Ozilou C, Cullinane A, Kyttala M, Shalev S, Audollent S, d'Humieres C, Kadhom N, Esculpavit C, Viot G, Boone C, Oien C, Encha-Razavi F, Batman PA, Bennett CP, Woods CG, Roume J, Lyonnet S, Genin E, Le MM, Munnich A, Gubler MC, Cox P, MacDonald F, Vekemans M, Johnson CA, ttie-Bitach T. 2007. Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. Hum Mutat 28:523-524.
13. Khanna H, Davis EE, Murga-Zamalloa CA, Estrada-Cuzcano A, Lopez I, den Hollander AI, Zonneveld MN, Othman MI, Waseem N, Chakarova CF, Maubaret C, az-Font A, Macdonald I, Muzny DM, Wheeler DA, Morgan M, Lewis LR, Logan CV, Tan PL, Beer MA, Inglehearn CF, Lewis RA, Jacobson SG, Bergmann C, Beales PL, ttie-Bitach T, Johnson CA, Otto EA, Bhattacharya SS, Hildebrandt F, Gibbs RA, Koenekoop RK, Swaroop A, Katsanis N. 2009. A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nat Genet 41:739-745
14. Lancaster MA, Gleeson JG. 2009. The primary cilium as a cellular signaling center: lessons from disease. Curr Opin Genet Dev 19:220-229.
15. Marshall WF. 2008. The cell biological basis of ciliary disease. J Cell Biol 180:17-21.
16. Otto EA, Tory K, Attanasio M, Zhou W, Chaki M, Paruchuri Y, Wise EL, Utsch B, Wolf MT, Becker C, Nurnberg G, Nurnberg P, Nayir A, Saunier S, Antignac C, Hildebrandt F. 2009. Hypomorphic Mutations in Meckelin (MKS3/TMEM67) cause Nephronophthisis with Liver Fibrosis (NPHP11). J Med Genet 46:663-670.
17. Salonen R. 1984. The Meckel syndrome: clinicopathological findings in 67 patients. Am J Med Genet 18:671-689. (Pubitemid 14074995)
18. Salonen R, Paavola P. 1998. Meckel syndrome. J Med Genet 35:497-501.
19. Sharma N, Berbari NF, Yoder BK. 2008. Chapter 13 - Ciliary dysfunction in developmental abnormalities and diseases. Curr Top Dev Biol 85:371-427.
20. Smith UM, Consugar M, Tee LJ, McKee BM, Maina EN, Whelan S, Morgan NV, Goranson E, Gissen P, Lilliquist S, Aligianis IA, Ward CJ, Pasha S, Punyashthiti R, Malik SS, Batman PA, Bennett CP, Woods CG, McKeown C, Bucourt M, Miller CA, Cox P, Algazali L, Trembath RC, Torres VE, ttie-Bitach T, Kelly DA, Maher ER, Gattone VH, Harris PC, Johnson CA. 2006. The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. Nat Genet 38:191-196.
21. Tallila J, Salonen R, Kohlschmidt N, Peltonen L, Kestila M. 2009. Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups? Hum Mutat 30:E813-E830.
22. Tammachote R, Hommerding CJ, Sinders RM, Miller CA, Czarnecki PG, Leightner AC, Salisbury JL, Ward CJ, Torres VE, Gattone VH, Harris PC. 2009. Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3. Hum Mol Genet 18:3311-3323
23. Tory K, Lacoste T, Burglen L, Moriniere V, Boddaert N, Macher MA, Llanas B, Nivet H, Bensman A, Niaudet P, Antignac C, Salomon R, Saunier S. 2007. High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations. J Am Soc Nephrol 18:1566-1575. (Pubitemid 46717524)
24. Valente EM, Brancati F, Dallapiccola B. 2008. Genotypes and phenotypes of Joubert syndrome and related disorders. Eur J Med Genet 51:1-23. (Pubitemid 351163186)
25. Wittwer CT. 2009. High-resolution DNA melting analysis: advancements and limitations. Hum Mutat 30:857-859.