The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

Nature Genetics

Volumn 39, Issue 7, 2007, Pages 875-881

  Delous, Marion ^a,b   Baala, Lekbir ^a,b   Salomon, Rémi ^a,b   Laclef, Christine ^c,d   Vierkotten, Jeanette ^e   Tory, Kàlmàn ^a,b   Golzio, Christelle ^a,b   Lacoste, Tiphanie ^a,b   Besse, Laurianne ^c,d   Ozilou, Catherine ^a   Moutkine, Imane ^a,b   Hellman, Nathan E ^a,b   Anselme, Isabelle ^c,d   Silbermann, Flora ^a,b   Vesque, Christine ^c,d   Gerhardt, Christoph ^e   Rattenberry, Eleanor ^f   Wolf, Matthias T F ^g   Gubler, Marie Claire ^a,b   Martinovic, Jéléna ^a   Encha Razavi, Féréchté ^a,b   Boddaert, Nathalie ^a   Gonzales, Marie ^h   Macher, Marie Alice ⁱ   Nivet, Hubert ^j   Champion, Gérard ^k   Berthélémé, Jean Pierre ^l   Niaudet, Patrick ^a,b   McDonald, Fiona ^f   Hildebrandt, Friedhelm ^g   Johnson, Colin A ^m   Vekemans, Michel ^a,b   Antignac, Corinne ^a,b   Rüther, Ulrich ^e   Schneider Maunoury, Sylvie ^c,d   Attié Bitach, Tania ^a,b   Saunier, Sophie ^a,b   more..

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c CNRS   (France)

^d SORBONNE UNIVERSITÉ   (France)

^e HEINRICH HEINE UNIVERSITY   (Germany)

^f BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

^g UNIVERSITY OF MICHIGAN   (United States)

^h ARMAND TROUSSEAU HOSPITAL   (France)

ⁱ HÔPITAL ROBERT DEBRÉ   (France)

^j UNIVERSITY HOSPITAL OF TOURS   (France)

^k ANGERS UNIVERSITY HOSPITAL   (France)

^l Centre de Perharidy   (France)

^m ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

NEPHROCYSTIN 4; PROTEIN DERIVATIVE; UNCLASSIFIED DRUG;

ANIMAL TISSUE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CENTROSOME; CHILD; CILIARY DYSKINESIA; DEVELOPMENTAL DISORDER; EMBRYO; FETUS; GENE INACTIVATION; GENE INTERACTION; GENE LOCATION; GENE MAPPING; GENE MUTATION; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN CELL; HUMAN TISSUE; JOUBERT SYNDROME; KIDNEY DISEASE; KINETOSOME; MECKEL SYNDROME; MISSENSE MUTATION; MOUSE; NEPHRONOPHTHISIS; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

ANIMALS; CEREBELLAR DISEASES; CHILD; CILIARY MOTILITY DISORDERS; DISEASE MODELS, ANIMAL; ENCEPHALOCELE; EYE DISEASES; HUMANS; KIDNEY DISEASES; MICE; MICE, INBRED C3H; MICE, INBRED C57BL; MICE, INBRED DBA; MICE, KNOCKOUT; MICE, MUTANT STRAINS; POINT MUTATION; PROTEINS; SYNDROME;

EID: 34347324031     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng2039     Document Type: Article

References (30)

1. Joubert, M., Eisenring, J.J., Robb, J.P. & Andermann, F. Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. Neurology 19, 813-825 (1969).
2. Patel, S. & Barkovich, A.J. Analysis and classification of cerebellar malformations. AJNR Am. J. Neuroradiol. 23, 1074-1087 (2002).
3. Saunier, S., Salomon, R. & Antignac, C. Nephronophthisis. Curr. Opin. Genet. Dev. 15, 324-331 (2005).
4. Valente, E.M. et al. Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. Nat. Genet. 38, 623-625 (2006).
5. Sayer, J.A. et al. The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Nat. Genet. 38, 674-681 (2006).
6. Ferland, R.J. et al. Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome. Nat. Genet. 36, 1008-1013 (2004).
7. Parisi, M.A. et al. The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome. Am. J. Hum. Genet. 75, 82-91 (2004).
8. Caridi, G. et al. Nephronophthisis type 1 deletion syndrome with neurological symptoms: prevalence and significance of the association. Kidney Int. 70, 1342-1347 (2006).
9. Betz, R. et al. Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis. J. Pediatr. 136, 828-831 (2000).
10. Tory, K. et al. 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 (2007).
11. Saar, K. et al. Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity. Am. J. Hum. Genet. 65, 1666-1671 (1999).
12. Valente, E.M. et al. Description, nomenclature and mapping of a novel cerebello-renal syndrome with the molar tooth malformation. Am. J. Hum. Genet. 73, 663-670 (2003).
13. Kyttala, M. et al. MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. Nat. Genet. 38, 155-157 (2006).
14. Smith, U.M. et al. The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. Nat. Genet. 38, 191-196 (2006).
15. Baala, L. et al. The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. Am. J. Hum. Genet. 80, 186-194 (2007).
16. Baala, L. et al. Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel-Gruber syndrome. Am. J. Hum. Genet. (in the press).
17. Dawe, H.R. et al. The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. Hum. Mol. Genet. 16, 173-186 (2007).
18. van der Hoeven, F. et al. Programmed cell death is affected in the novel mouse mutant Fused toes (Ft). Development 120, 2601-2607 (1994).
19. Anselme, I., Laclef, C., Lanaud, M., Rüther, U. & Schneider-Maunoury, S. Defects in brain patterning and head morphogenesis in the mouse mutant Fused-Toes. Dev. Biol. 304, 208-220 (2007).
20. Roepman, R. et al. Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations. Proc. Natl. Acad. Sci. USA 102, 18520-18525 (2005).
21. Mollet, G. et al. The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin. Nat. Genet. 32, 300-305 (2002).
22. Mollet, G. et al. Characterization of the nephrocystin/ nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes. Hum. Mol. Genet. 14, 645-656 (2005).
23. Blacque, O.E. et al. Functional genomics of the cilium, a sensory organelle. Curr. Biol. 15, 935-941 (2005).
24. Dryja, T.P. et al. Null RPGRIP1 alleles in patients with Leber congenital amaurosis. Am. J. Hum. Genet. 68, 1295-1298 (2001).
25. Chen, D. & Shou, C. Molecular cloning of a tumor-associated antigen recognized by monoclonal antibody 3H11. Biochem. Biophys. Res. Commun. 280, 99-103 (2001).
26. Watnick, T. & Germino, G. From cilia to cyst. Nat. Genet. 34, 355-356 (2003).
27. Otto, E.A. et al. Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination. Nat. Genet. 34, 413-420 (2003).
28. Huangfu, D. & Anderson, K.V. Cilia and Hedgehog responsiveness in the mouse. Proc. Natl. Acad. Sci. USA 102, 11325-11330 (2005).
29. Kruglyak, L., Daly, M.J., Reeve-Daly, M.P. & Lander, E.S. Parametric and nonparametric linkage analysis: a unified multipoint approach. Am. J. Hum. Genet. 58, 1347-1363 (1996).
30. Espinosa-Parrilla, Y. et al. Expression of the SMADIP1 gene during early human development. Mech. Dev. 114, 187-191 (2002).