A founder mutation in the Ashkenazi Jewish population affecting messenger RNA splicing of the CCM2 gene causes cerebral cavernous malformations

Genetics in Medicine

Volumn 13, Issue 7, 2011, Pages 662-666

  Gallione, Carol J ^a   Solatycki, Ann ^b   Awad, Issam A ^c   Weber, James L ^b   Marchuk, Douglas A ^a  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

^b Prevention Genetics   (United States)

^c UNIVERSITY OF CHICAGO   (United States)

Author keywords

Ashkenazi Jews; CCM2; cerebral cavernous malformation; founder mutation; mRNA splicing

Indexed keywords

MESSENGER RNA;

ALLELE; ARTICLE; CAVERNOUS HEMANGIOMA; CEREBRAL CAVERNOUS MALFORMATION 2 GENE; GENE; GENE MUTATION; GENE SEQUENCE; GENOME; HAPLOTYPE; HUMAN; JEW; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; POPULATION GENETICS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; SINGLE NUCLEOTIDE POLYMORPHISM;

BASE SEQUENCE; CARRIER PROTEINS; CENTRAL NERVOUS SYSTEM VASCULAR MALFORMATIONS; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; FOUNDER EFFECT; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; JEWS; MALE; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; RNA SPLICING;

EID: 79960835421     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1097/GIM.0b013e318211ff8b     Document Type: Article

References (26)

1. Yadla S, Jabbour PM, Shenkar R, Shi C, Campbell PG, Awad IA. Cerebral cavernous malformations as a disease of vascular permeability: from bench to bedside with caution. Neurosurg Focus 2010;29:E4.
2. Laberge-le Couteulx S, Jung HH, Labauge P, et al. Truncating mutations in CCM1, encoding KRIT1, cause hereditary cavernous angiomas. Nat Genet 1999;23:189-193. (Pubitemid 29455391)
3. Sahoo T, Johnson EW, Thomas JW, et al. Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, cause cerebral cavernous malformations (CCM1). Hum Mol Genet 1999;8:2325-2333. (Pubitemid 29525349)
4. Liquori CL, Berg MJ, Siegel AM, et al. Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations. Am J Hum Genet 2003;73:1459-1464. (Pubitemid 38037437)
5. Denier C, Goutagny S, Labauge P, et al. Mutations within the MGC4607 gene cause cerebral cavernous malformations. Am J Hum Genet 2004;74: 326-337. (Pubitemid 38168620)
6. Bergametti F, Denier C, Labauge P, et al. Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations. Am J Hum Genet 2005;76:42-51. (Pubitemid 40023764)
7. Liquori CL, Berg MJ, Squitieri F, et al. Deletions in CCM2 are a common cause of cerebral cavernous malformations. Am J Hum Genet 2007;80: 69-75. (Pubitemid 46047651)
8. Johnson EW, Iyer LM, Rich SS, et al. Refined localization of the cerebral cavernous malformation gene (CCM1) to a 4-cM interval of chromosome 7q contained in a well-defined YAC contig. Genome Res 1995;5:368-380. (Pubitemid 26016743)
9. Gunel M, Awad IA, Finberg K, et al. A founder mutation as a cause of cerebral cavernous malformation in Hispanic Americans. N Engl J Med 1996;334:946-951. (Pubitemid 26114160)
10. Motulsky AG. Jewish diseases and origins. Nat Genet 1995;9:99-101.
11. Charrow J. Ashkenazi Jewish genetic disorders. Fam Cancer 2004;3:201-206. (Pubitemid 39491735)
12. Church DM, Stotler CJ, Rutter JL, Murrell JR, Trofatter JA, Buckler AJ. Isolation of genes from complex sources of mammalian genomic DNA using exon amplification. Nat Genet 1994;6:98-105. (Pubitemid 24191920)
13. Hebsgaard SM, Korning PG, Tolstrup N, Engelbrecht J, Rouze P, Brunak S. Splice site prediction in Arabidopsis thaliana pre-mRNA by combining local and global sequence information. Nucleic Acids Res 1996;24:3439-3452. (Pubitemid 26294458)
14. Reese MG, Eeckman FH, Kulp D, Haussler D. Improved splice site detection in Genie. J Comput Biol 1997;4:311-323. (Pubitemid 27355870)
15. Yeo G, Burge CB. Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals. J Comput Biol 2004;11:377-394. (Pubitemid 38901668)
16. Verlaan DJ, Laurent SB, Rochefort DL, et al. CCM2 mutations account for 13% of cases in a large collection of kindreds with hereditary cavernous malformations. Ann Neurol 2004;55:757-758. (Pubitemid 38544342)
17. Gianfrancesco F, Cannella M, Martino T, et al. Highly variable penetrance in subjects affected with cavernous cerebral angiomas (CCM) carrying novel CCM1 and CCM2 mutations. Am J Med Genet B Neuropsychiatr Genet 2007;144B:691-695. (Pubitemid 47077155)
18. Svenson IK, Ashley-Koch AE, Gaskell PC, et al. Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia. Am J Hum Genet 2001;68:1077-1085. (Pubitemid 32424406)
19. Svenson IK, Ashley-Koch AE, Pericak-Vance MA, Marchuk DA. A second leaky splice-site mutation in the spastin gene. Am J Hum Genet 2001;69: 1407-1409. (Pubitemid 33124223)
20. Wheeler FC, Tang H, Marks OA, et al. Tnni3k modifies disease progression in murine models of cardiomyopathy. PLoS Genet 2009;5:e1000647.
21. Ward AJ, Cooper TA. The pathobiology of splicing. J Pathol 2010;220: 152-163.
22. Anderson SL, Coli R, Daly IW, et al. Familial dysautonomia is caused by mutations of the IKAP gene. Am J Hum Genet 2001;68:753-758. (Pubitemid 32202767)
23. Slaugenhaupt SA, Blumenfeld A, Gill SP, et al. Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. Am J Hum Genet 2001;68:598-605. (Pubitemid 32202755)
24. Felbor U, Sure U, Grimm T, Bertalanffy H. Genetics of cerebral cavernous angioma. Zentralbl Neurochir 2006;67:110-116. (Pubitemid 44407798)
25. Surucu O, Sure U, Gaetzner S, et al. Clinical impact of CCM mutation detection in familial cavernous angioma. Childs Nerv Syst 2006;22:1461-1464. (Pubitemid 44650682)
26. Rubinstein WS. Hereditary breast cancer in Jews. Fam Cancer 2004;3:249-257.