CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation

Human Mutation

Volumn 30, Issue 11, 2009, Pages 1574-1582

  Mougou Zerelli, Soumaya ^a,b,m   Thomas, Sophie ^a,b   Szenker, Emmanuelle ^a   Audollent, Sophie ^a   Elkhartoufi, Nadia ^a   Babarit, Candice ^a   Romano, Stéphane ^a   Salomon, Rémi ^a,b   Amiel, Jeanne ^a,b   Esculpavit, Chantal ^b   Gonzales, Marie ^c   Escudier, Estelle ^d   Leheup, Bruno ^e   Loget, Philippe ^f   Odent, Sylvie ^g   Roume, Joëlle ^h   Gérard, Marion ⁱ   Delezoide, Anne Lise ^b,i   Khung, Suonavy ⁱ   Patrier, Sophie ^c   Cordier, Marie Pierre ^j   Bouvier, Raymonde ^j   Martinovic, Jéléna ^a   Gubler, Marie Claire ^a   Boddaert, Nathalie ^a   Munnich, Arnold ^a,b   Encha Razavi, Férechté ^a,b   Valente, Enza Maria ^k,l   Saad, Ali ^m   Saunier, Sophie ^a,b   Vekemans, Michel ^a,b   Attié Bitach, Tania ^a,b   more..

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c ARMAND TROUSSEAU HOSPITAL   (France)

^d INSERM   (France)

^e UNIVERSITY HOSPITAL OF NANCY   (France)

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

^g SERVICE DE RHUMATOLOGIE   (France)

^h CENTRE HOSPITALIER INTERCOMMUNAL   (France)

ⁱ HÔPITAL ROBERT DEBRÉ   (France)

^j HOSPICES CIVILS DE LYON   (France)

^k Mendel Institute   (Italy)

^l UNIVERSITY OF MESSINA   (Italy)

^m FARHAT HACHED HOSPITAL   (Tunisia)

more..

Author keywords

CC2D2A; Ciliopathy; JBS; Joubert syndrome; Meckel Gruber syndrome; MKS

Indexed keywords

GENOMIC DNA;

ALLELISM; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BLOOD SAMPLING; CC2D2A GENE; CLINICAL FEATURE; DNA EXTRACTION; ETHNICITY; FETUS; GENE; GENE EXPRESSION; GENE FREQUENCY; GENETIC ANALYSIS; GENETIC LINKAGE; GENOTYPE PHENOTYPE CORRELATION; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; IN SITU HYBRIDIZATION; JOUBERT SYNDROME; MAJOR CLINICAL STUDY; MECKEL SYNDROME; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RNA SPLICING;

ALLELES; COHORT STUDIES; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GENES, RECESSIVE; GENETIC ASSOCIATION STUDIES; GENOTYPE; HUMANS; IN SITU HYBRIDIZATION; MALE; MUTATION; NERVOUS SYSTEM DISEASES; PHENOTYPE; PROTEINS; RNA SPLICING; SYNDROME;

EID: 70350719356     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.21116     Document Type: Article

References (30)

1. Baala L, Audollent S, Martinovic J, Ozilou C, Babron MC, Sivanandamoorthy S, Saunier S, Salomon R, Gonzales M, Rattenberry E, Esculpavit C, Toutain A, Moraine C, Parent P, Marcorelles P, Dauge MC, Roume J, Le Merrer M, Meiner V, Meir K, Menez F, Beaufrere AM, Francannet C, Tantau J, Sinico M, Dumez Y, MacDonald F, Munnich A, Lyonnet S, Gubler MC, Genin E, Johnson CA, Vekemans M, Encha-Razavi F, Attie-Bitach T. 2007a. Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. Am J Hum Genet 81:170-179. (Pubitemid 47001167)
2. 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 Lonlay P, Johnson CA, Vekemans M, Antignac C, Attie-Bitach T. 2007b. The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. Am J Hum Genet 80:186-194. (Pubitemid 46055178)
3. Badano JL, Mitsuma N, Beales PL, Katsanis N. 2006. The ciliopathies: an emerging class of human genetic disorders. Annu Rev Genomics Hum Genet 7: 125-148. (Pubitemid 44627925)
4. Cantagrel V, Silhavy JL, Bielas SL, Swistun D, Marsh SE, Bertrand JY, Audollent S, Attié-Bitach T, Holden KR, Dobyns WB, Traver D, Al-Gazali L, Ali BR, Lindner TH, Caspary T, Otto EA, Hildebrandt F, Glass IA, Logan CV, Johnson CA, Bennett C, Brancati F; International Joubert Syndrome Related Disorders Study Group, Valente EM, Woods CG, Gleeson JG. 2008. Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. Am J Hum Genet 83:170-179.
5. Caridi G, Dagnino M, Rossi A, Valente EM, Bertini E, Fazzi E, Emma F, Murer L, Verrina E, Ghiggeri GM. 2006. Nephronophthisis type 1 deletion syndrome with neurological symptoms: prevalence and significance of the association. Kidney Int 70:1342-1347. (Pubitemid 44435187)
6. Dawe HR, Smith UM, Cullinane AR, Gerrelli D, Cox P, Badano JL, Blair-Reid S, Sriram N, Katsanis N, Attie-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. (Pubitemid 46179000)
7. Delous M, Baala L, Salomon R, Laclef C, Vierkotten J, Tory K, Golzio C, Lacoste T, Besse L, Ozilou C, Moutkine I, Hellman NE, Anselme I, Silbermann F, Vesque C, Gerhardt C, Rattenberry E, Wolf MT, Gubler MC, Martinovic J, Encha-Razavi F, Boddaert N, Gonzales M, Macher MA, Nivet H, Champion G, Bertheleme JP, Niaudet P, McDonald F, Hildebrandt F, Johnson CA, Vekemans M, Antignac C, Ruther U, Schneider-Maunoury S, Attie-Bitach T, Saunier S. 2007. The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. Nat Genet 39:875-881. (Pubitemid 47014487)
8. Dixon-Salazar T, Silhavy JL, Marsh SE, Louie CM, Scott LC, Gururaj A, Al-Gazali L, Al-Tawari AA, Kayserili H, Sztriha L, Gleeson JG. 2004. Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria. Am J Hum Genet 75:979-987. (Pubitemid 39532068)
9. Ferland RJ, Eyaid W, Collura RV, Tully LD, Hill RS, Al-Nouri D, Al-Rumayyan A, Topcu M, Gascon G, Bodell A, Shugart YY, Ruvolo M, Walsh CA. 2004. Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome. Nat Genet 36:1008-1013. (Pubitemid 39167500)
10. Gorden NT, Arts HH, Parisi MA, Coene KL, Letteboer SJ, van Beersum SE, Mans DA, Hikida A, Eckert M, Knutzen D, Alswaid AF, Ozyurek H, Dibooglu S, Otto EA, Liu Y, Davis EE, Hutter CM, Bammler TK, Farin FM, Dorschner M, Topc-u M, Zackai EH, Rosenthal P, Owens KN, Katsanis N, Vincent JB, Hildebrandt F, Rubel EW, Raible DW, Knoers NV, Chance PF, Roepman R, Moens CB, Glass IA, Doherty D. 2008. CC2D2A Is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. Am J Hum Genet 83:559-571.
11. Hoefele J, Wolf MT, O'Toole JF, Otto EA, Schultheiss U, Deschenes G, Attanasio M, Utsch B, Antignac C, Hildebrandt F. 2007. Evidence of oligogenic inheritance in nephronophthisis. J Am Soc Nephrol 18:2789-2795.
12. Joubert M, Eisenring JJ, Andermann F. 1968. Familial dysgenesis of the vermis: a syndrome of hyperventilation, abnormal eye movements and retardation. Neurology 18:302-303.
13. Keeler LC, Marsh SE, Leeflang EP, Woods CG, Sztriha L, Al-Gazali L, Gururaj A, Gleeson JG. 2003. Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12- q13.3. Am J Hum Genet 73:656-662. (Pubitemid 37076279)
14. Khaddour R, Smith U, Baala L, Martinovic J, Clavering D, Shaffiq R, Ozilou C, Cullinane A, Kyttälä M, Shalev S, Audollent S, d'Humièsres C, Kadhom N, Esculpavit C, Viot G, Boone C, Oien C, Encha-Razavi F, Batman PA, Bennett CP, Woods CG, Roume J, Lyonnet S, Génin E, Le Merrer M, Munnich A, Gubler MC, Cox P, Macdonald F, Vekemans M, Johnson CA, Attié-Bitach T; SOFFOET (Société Franc- aise de Foetopathologie). 2007. Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in Brief #960. Online. Hum Mutat 28:523-524.
15. 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, Diaz-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, Attié-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.
16. Kyttälä M, Tallila J, Salonen R, Kopra O, Kohlschmidt N, Paavola-Sakki P, Peltonen L, Kestila M. 2006. MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. Nat Genet 38:155-157. (Pubitemid 43177228)
17. Leitch CC, Zaghloul NA, Davis EE, Stoetzel C, Diaz-Font A, Rix S, Alfadhel M, Lewis RA, Eyaid W, Banin E, Dollfus H, Beales PL, Badano JL, Katsanis N. 2008. Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. Nat Genet 40:443-448.
18. Noor A, Windpassinger C, Patel M, Stachowiak B, Mikhailov A, Azam M, Irfan M, Siddiqui ZK, Naeem F, Paterson AD, Lutfullah M, Vincent JB, Ayub M. 2008. CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa. Am J Hum Genet 82:1011-1018.
19. Parisi MA, Bennett CL, Eckert ML, Dobyns WB, Gleeson JG, Shaw DW, McDonald R, Eddy A, Chance PF, Glass IA. 2004. 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. (Pubitemid 38801903)
20. Patel S, Barkovich AJ. 2002. Analysis and classification of cerebellar malformations. AJNR Am J Neuroradiol 23:1074-1087.
21. Ramensky V, Bork P, Sunyaev S. 2002. Human non-synonymous SNPs: server and survey. Nucleic Acids Res 30:3894-3900. (Pubitemid 35012462)
22. Roume J, Genin E, Cormier-Daire V, Ma HW, Mehaye B, Attie T, Razavi-Encha F, Fallet-Bianco C, Buenerd A, Clerget-Darpoux F, Munnich A, Le Merrer M. 1998. A gene for Meckel syndrome maps to chromosome 11q13. Am J Hum Genet 63:1095-1101. (Pubitemid 30418580)
23. Saar K, Al-Gazali L, Sztriha L, Rueschendorf F, Nur EKM, Reis A, Bayoumi R. 1999. 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. (Pubitemid 30468679)
24. 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 Sharif S, Batman PA, Bennett CP, Woods CG, McKeown C, Bucourt M, Miller CA, Cox P, Algazali L, Trembath RC, Torres VE, Attie-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. (Pubitemid 43177232)
25. Tallila J, Jakkula E, Peltonen L, Salonen R, Kestila M. 2008. Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle. Am J Hum Genet 82:1361-1367.
26. 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)
27. Utsch B, Sayer JA, Attanasio M, Pereira RR, Eccles M, Hennies HC, Otto EA, Hildebrandt F. 2006. Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome. Pediatr Nephrol 21:32-35. (Pubitemid 43040191)
28. 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)
29. Valente EM, Salpietro DC, Brancati F, Bertini E, Galluccio T, Tortorella G, Briuglia S, Dallapiccola B. 2003. Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation. Am J Hum Genet 73:663-670. (Pubitemid 37076280)
30. Wildeman M, van Ophuizen E, den Dunnen JT, Taschner PEM. 2008. Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker. Hum Mutat 29:6-13.