Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1

American Journal of Human Genetics

Volumn 91, Issue 3, 2012, Pages 553-564

  Guergueltcheva, Velina ^a   Azmanov, Dimitar N ^b   Angelicheva, Dora ^b   Smith, Katherine R ^c,i   Chamova, Teodora ^a   Florez, Laura ^b   Bynevelt, Michael ^b,d   Nguyen, Thai ^e   Cherninkova, Sylvia ^a   Bojinova, Veneta ^a   Kaprelyan, Ara ^f   Angelova, Lyudmila ^f   Morar, Bharti ^b   Chandler, David ^g   Kaneva, Radka ^a   Bahlo, Melanie ^c,i   Tournev, Ivailo ^a,h   Kalaydjieva, Luba ^b  

^a MEDICAL UNIVERSITY OF SOFIA   (Bulgaria)

^b UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^c WALTER AND ELIZA HALL INSTITUTE OF MEDICAL RESEARCH   (Australia)

^d SIR CHARLES GAIRDNER HOSPITAL   (Australia)

^e PRINCESS MARGARET HOSPITAL FOR CHILDREN   (Australia)

^f MEDICAL UNIVERSITY OF VARNA   (Bulgaria)

^g Australian Genome Research Facility Ltd   (Australia)

^h NEW BULGARIAN UNIVERSITY   (Bulgaria)

ⁱ UNIVERSITY OF MELBOURNE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

METABOTROPIC RECEPTOR 1;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CELL LINE; CEREBELLAR ATAXIA; CHILD; CLINICAL ARTICLE; DYSMETRIA; EXOME; FAMILY; FEMALE; GENE DELETION; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC LINKAGE; GENOTYPE; HEREDITARY ATAXIA; HOMOZYGOSITY; HUMAN; INTELLECTUAL IMPAIRMENT; INTRON; MALE; NEUROIMAGING; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SPLICING DEFECT; TREMOR;

EID: 84866055384     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2012.07.019     Document Type: Article

References (49)

1. Palau, F., and Espinó s, C. (2006). Autosomal recessive cerebellar ataxias. Orphanet J. Rare Dis. 1, 47.
2. Fogel, B.L., and Perlman, S. (2007). Clinical features and molecular genetics of autosomal recessive cerebellar ataxias. Lancet Neurol. 6, 245-257. (Pubitemid 46228080)
3. Norman, R.M. (1940). Primary degeneration of the granular layer of the cerebellum: An unusual form of familial cerebellar atrophy occurring in early life. Brain 63, 365-379.
4. Steinlin, M. (1998). Non-progressive congenital ataxias. Brain Dev. 20, 199-208. (Pubitemid 28287028)
5. Mégarbané, A., Delague, V., Ruchoux, M.M., Rizkallah, E., Maurage, C.A., Viollet, L., Rouaix-Emery, N., and Urtizberea, A. (2001). New autosomal recessive cerebellar ataxia disorder in a large inbred Lebanese family. Am. J. Med. Genet. 101, 135-141. (Pubitemid 32520714)
6. Bomar, J.M., Benke, P.J., Slattery, E.L., Puttagunta, R., Taylor, L.P., Seong, E., Nystuen, A., Chen, W., Albin, R.L., Patel, P.D., et al. (2003). Mutations in a novel gene encoding a CRALTRIO domain cause human Cayman ataxia and ataxia/ dystonia in the jittery mouse. Nat. Genet. 35, 264-269. (Pubitemid 37363181)
7. Glass, H.C., Boycott, K.M., Adams, C., Barlow, K., Scott, J.N., Chudley, A.E., Fujiwara, T.M., Morgan, K., Wirrell, E., and McLeod, D.R. (2005). Autosomal recessive cerebellar hypoplasia in the Hutterite population. Dev. Med. Child Neurol. 47, 691-695. (Pubitemid 41447778)
8. Lagier-Tourenne, C., Tazir, M., López, L.C., Quinzii, C.M., Assoum, M., Drouot, N., Busso, C., Makri, S., Ali-Pacha, L., Benhassine, T., et al. (2008). ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency. Am. J. Hum. Genet. 82, 661-672. (Pubitemid 351735958)
9. Türkmen, S., Hoffmann, K., Demirhan, O., Aruoba, D., Humphrey, N., and Mundlos, S. (2008). Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene. Eur. J. Hum. Genet. 16, 1070-1074.
10. Türkmen, S., Guo, G., Garshasbi, M., Hoffmann, K., Alshalah, A.J., Mischung, C., Kuss, A., Humphrey, N., Mundlos, S., and Robinson, P.N. (2009). CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait. PLoS Genet. 5, e1000487.
11. Angelicheva, D., Turnev, I., Dye, D., Chandler, D., Thomas, P.K., and Kalaydjieva, L. (1999). Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: A novel developmental disorder in Gypsies maps to 18qter. Eur. J. Hum. Genet. 7, 560-566. (Pubitemid 29378031)
12. Varon, R., Gooding, R., Steglich, C., Marns, L., Tang, H., Angelicheva, D., Yong, K.K., Ambrugger, P., Reinhold, A., Morar, B., et al. (2003). Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome. Nat. Genet. 35, 185-189. (Pubitemid 37187639)
13. Kalaydjieva, L., Morar, B., Chaix, R., and Tang, H. (2005). A newly discovered founder population: The Roma/Gypsies. Bioessays 27, 1084-1094. (Pubitemid 41608965)
14. Kalaydjieva, L., Calafell, F., Jobling, M.A., Angelicheva, D., de Knijff, P., Rosser, Z.H., Hurles, M.E., Underhill, P., Tournev, I., Marushiakova, E., and Popov, V. (2001). Patterns of inter-and intra-group genetic diversity in the Vlax Roma as revealed by Y chromosome and mitochondrial DNA lineages. Eur. J. Hum. Genet. 9, 97-104. (Pubitemid 32156690)
15. Gresham, D., Morar, B., Underhill, P.A., Passarino, G., Lin, A.A., Wise, C., Angelicheva, D., Calafell, F., Oefner, P.J., Shen, P., et al. (2001). Origins and divergence of the Roma (gypsies). Am. J. Hum. Genet. 69, 1314-1331. (Pubitemid 33124213)
16. Schmitz-Hübsch, T., du Montcel, S.T., Baliko, L., Berciano, J., Boesch, S., Depondt, C., Giunti, P., Globas, C., Infante, J., Kang, J.S., et al. (2006). Scale for the assessment and rating of ataxia: Development of a new clinical scale. Neurology 66, 1717-1720. (Pubitemid 43964628)
17. American Psychiatric Association. (2000). Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (Washington, DC: American Psychiatric Association).
18. Li, H., Ruan, J., and Durbin, R. (2008). Mapping short DNA sequencing reads and calling variants using mapping quality scores. Genome Res. 18, 1851-1858.
19. Li, H. (2011). Improving SNP discovery by base alignment quality. Bioinformatics 27, 1157-1158.
20. Wang, K., Li, M., and Hakonarson, H. (2010). ANNOVAR: Functional annotation of genetic variants from highthroughput sequencing data. Nucleic Acids Res. 38, e164.
21. Kumar, P., Henikoff, S., and Ng, P.C. (2009). Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat. Protoc. 4, 1073-1081.
22. Adzhubei, I.A., Schmidt, S., Peshkin, L., Ramensky, V.E., Gerasimova, A., Bork, P., Kondrashov, A.S., and Sunyaev, S.R. (2010). A method and server for predicting damaging missense mutations. Nat. Methods 7, 248-249.
23. Smith, K.R., Bromhead, C.J., Hildebrand, M.S., Shearer, A.E., Lockhart, P.J., Najmabadi, H., Leventer, R.J., McGillivray, G., Amor, D.J., Smith, R.J., and Bahlo, M. (2011). Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypes. Genome Biol. 12, R85.
24. Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M.A., Bender, D., Maller, J., Sklar, P., de Bakker, P.I., Daly, M.J., and Sham, P.C. (2007). PLINK: A tool set for wholegenome association and population-based linkage analyses. Am. J. Hum. Genet. 81, 559-575. (Pubitemid 47330214)
25. Leutenegger, A.L., Prum, B., Génin, E., Verny, C., Lemainque, A., Clerget-Darpoux, F., and Thompson, E.A. (2003). Estimation of the inbreeding coefficient through use of genomic data. Am. J. Hum. Genet. 73, 516-523. (Pubitemid 37076266)
26. Abecasis, G.R., Cherny, S.S., Cookson,W.O., and Cardon, L.R. (2002). Merlin-rapid analysis of dense genetic maps using sparse gene flow trees. Nat. Genet. 30, 97-101.
27. Thiele, H., and Nürnberg, P. (2005). HaploPainter: A tool for drawing pedigrees with complex haplotypes. Bioinformatics 21, 1730-1732. (Pubitemid 40542746)
28. Ayoub, M.A., Angelicheva, D., Vile, D., Chandler, D., Morar, B., Cavanaugh, J.A., Visscher, P.M., Jablensky, A., Pfleger, K.D., and Kalaydjieva, L. (2012). Deleterious GRM1 mutations in schizophrenia. PLoS ONE 7, e32849.
29. Frank, R.A., McRae, A.F., Pocklington, A.J., van de Lagemaat, L.N., Navarro, P., Croning, M.D., Komiyama, N.H., Bradley, S.J., Challiss, R.A., Armstrong, J.D., et al. (2011). Clustered coding variants in the glutamate receptor complexes of individuals with schizophrenia and bipolar disorder. PLoS ONE 6, e19011.
30. Morar, B., Gresham, D., Angelicheva, D., Tournev, I., Gooding, R., Guergueltcheva, V., Schmidt, C., Abicht, A., Lochmuller, H., Tordai, A., et al. (2004). Mutation history of the roma/ gypsies. Am. J. Hum. Genet. 75, 596-609.
31. Kunishima, N., Shimada, Y., Tsuji, Y., Sato, T., Yamamoto, M., Kumasaka, T., Nakanishi, S., Jingami, H., and Morikawa, K. (2000). Structural basis of glutamate recognition by a dimeric metabotropic glutamate receptor. Nature 407, 971-977.
32. Pin, J.P., Joly, C., Heinemann, S.F., and Bockaert, J. (1994). Domains involved in the specificity of G protein activation in phospholipase C-coupled metabotropic glutamate receptors. EMBO J. 13, 342-348. (Pubitemid 24034216)
33. Knoflach, F., Mutel, V., Jolidon, S., Kew, J.N., Malherbe, P., Vieira, E., Wichmann, J., and Kemp, J.A. (2001). Positive allosteric modulators of metabotropic glutamate 1 receptor: Characterization, mechanism of action, and binding site. Proc. Natl. Acad. Sci. USA 98, 13402-13407. (Pubitemid 33051375)
34. Ferraguti, F., Crepaldi, L., and Nicoletti, F. (2008). Metabotropic glutamate 1 receptor: Current concepts and perspectives. Pharmacol. Rev. 60, 536-581.
35. Pin, J.P.,Waeber, C., Prezeau, L., Bockaert, J., and Heinemann, S.F. (1992). Alternative splicing generates metabotropic glutamate receptors inducing different patterns of calcium release in Xenopus oocytes. Proc. Natl. Acad. Sci. USA 89, 10331-10335.
36. Nicoletti, F., Bockaert, J., Collingridge, G.L., Conn, P.J., Ferraguti, F., Schoepp, D.D., Wroblewski, J.T., and Pin, J.P. (2011). Metabotropic glutamate receptors: From the workbench to the bedside. Neuropharmacology 60, 1017-1041.
37. Enz, R. (2007). The trick of the tail: Protein-protein interactions of metabotropic glutamate receptors. Bioessays 29, 60-73. (Pubitemid 46181805)
38. Mary, S., Gomeza, J., Prézeau, L., Bockaert, J., and Pin, J.P. (1998). A cluster of basic residues in the carboxyl-terminal tail of the short metabotropic glutamate receptor 1 variants impairs their coupling to phospholipase C. J. Biol. Chem. 273, 425-432. (Pubitemid 28042228)
39. Francesconi, A., and Duvoisin, R.M. (2002). Alternative splicing unmasks dendritic and axonal targeting signals in metabotropic glutamate receptor 1. J. Neurosci. 22, 2196-2205. (Pubitemid 35386519)
40. Pacheco, R., Ciruela, F., Casadó, V., Mallol, J., Gallart, T., Lluis, C., and Franco, R. (2004). Group I metabotropic glutamate receptors mediate a dual role of glutamate in T cell activation. J. Biol. Chem. 279, 33352-33358. (Pubitemid 39062983)
41. Makoff, A.J., Phillips, T., Pilling, C., and Emson, P. (1997). Expression of a novel splice variant of human mGluR1 in the cerebellum. Neuroreport 8, 2943-2947. (Pubitemid 27394823)
42. Crepaldi, L., Lackner, C., Corti, C., and Ferraguti, F. (2007). Transcriptional activators and repressors for the neuronspecific expression of a metabotropic glutamate receptor. J. Biol. Chem. 282, 17877-17889. (Pubitemid 47100275)
43. Kano, M., Hashimoto, K., and Tabata, T. (2008). Type-1 metabotropic glutamate receptor in cerebellar Purkinje cells: A key molecule responsible for long-term depression, endocannabinoid signalling and synapse elimination. Philos. Trans. R. Soc. Lond. B Biol. Sci. 363, 2173-2186. (Pubitemid 351693529)
44. Lüscher, C., and Huber, K.M. (2010). Group 1 mGluRdependent synaptic long-term depression: Mechanisms and implications for circuitry and disease. Neuron 65, 445-459.
45. Gil-Sanz, C., Delgado-García, J.M., Fairén, A., and Gruart, A. (2008). Involvement of the mGluR1 receptor in hippocampal synaptic plasticity and associative learning in behaving mice. Cereb. Cortex 18, 1653-1663. (Pubitemid 351882041)
46. Coates, J.R., O'Brien, D.P., Kline, K.L., Storts, R.W., Johnson, G.C., Shelton, G.D., Patterson, E.E., and Abbott, L.C. (2002). Neonatal cerebellar ataxia in Coton de Tulear dogs. J. Vet. Intern. Med. 16, 680-689. (Pubitemid 135748362)
47. Sillevis Smitt, P., Kinoshita, A., De Leeuw, B., Moll, W., Coesmans, M., Jaarsma, D., Henzen-Logmans, S., Vecht, C., De Zeeuw, C., Sekiyama, N., et al. (2000). Paraneoplastic cerebellar ataxia due to autoantibodies against a glutamate receptor. N. Engl. J. Med. 342, 21-27. (Pubitemid 30020656)
48. Marignier, R., Chenevier, F., Rogemond, V., Sillevis Smitt, P., Renoux, C., Cavillon, G., Androdias, G., Vukusic, S., Graus, F., Honnorat, J., and Confavreux, C. (2010). Metabotropic glutamate receptor type 1 autoantibody-associated cerebellitis: A primary autoimmune disease? Arch. Neurol. 67, 627-630.
49. Rossi, P.I., Vaccari, C.M., Terracciano, A., Doria-Lamba, L., Facchinetti, S., Priolo, M., Ayuso, C., De Jorge, L., Gimelli, S., Santorelli, F.M., et al. (2010). The metabotropic glutamate receptor 1, GRM1: Evaluation as a candidate gene for inherited forms of cerebellar ataxia. J. Neurol. 257, 598-602.