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                   affected by cerebral cavernous malformations: new information on CCM2 penetrance. Front Neurol 2018;9:953.  DOI  PubMed  PMC
               62.      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;334:946-51.  DOI  PubMed
               63.      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;8:2325-33.  DOI  PubMed
               64.      Stahl S, Gaetzner S, Voss K, et al. Novel CCM1, CCM2, and CCM3 mutations in patients with cerebral cavernous malformations: in-
                   frame deletion in CCM2 prevents formation of a CCM1/CCM2/CCM3 protein complex. Hum Mutat 2008;29:709-17.  DOI  PubMed
               65.      Liquori CL, Penco S, Gault J, et al. Different spectra of genomic deletions within the CCM genes between Italian and American CCM
                   patient cohorts. Neurogenetics 2008;9:25-31.  DOI  PubMed
               66.      Cau M, Loi M, Melis M, et al. C329X in KRIT1 is a founder mutation among CCM patients in Sardinia. Eur J Med Genet
                   2009;52:344-8.  DOI  PubMed
               67.      Gallione CJ, Solatycki A, Awad IA, Weber JL, Marchuk DA. A founder mutation in the Ashkenazi Jewish population affecting
                   messenger RNA splicing of the CCM2 gene causes cerebral cavernous malformations. Genet Med 2011;13:662-6.  DOI  PubMed
                   PMC
               68.      Ortiz L, Costa AF, Bellido ML, et al. Study of cerebral cavernous malformation in Spain and Portugal: high prevalence of a 14 bp
                   deletion in exon 5 of MGC4607 (CCM2 gene). J Neurol 2007;254:322-6.  DOI  PubMed
               69.      Mondéjar R, Solano F, Rubio R, et al. Mutation prevalence of cerebral cavernous malformation genes in Spanish patients. PLoS One
                   2014;9:e86286.  DOI  PubMed  PMC
               70.      Perne A, Zhang X, Lehmann L, Groth M, Stuber F, Book M. Comparison of multiplex ligation-dependent probe amplification and
                   real-time PCR accuracy for gene copy number quantification using the beta-defensin locus. Biotechniques 2009;47:1023-8.  DOI
                   PubMed
               71.      Yao R, Yu T, Qing Y, Wang J, Shen Y. Evaluation of copy number variant detection from panel-based next-generation sequencing
                   data. Mol Genet Genomic Med 2019;7:e00513.  DOI  PubMed  PMC
               72.      Verlaan DJ, Siegel AM, Rouleau GA. Krit1 missense mutations lead to splicing errors in cerebral cavernous malformation. Am J Hum
                   Genet 2002;70:1564-7.  DOI  PubMed  PMC
               73.      Battistini S, Ricci C. Concern regarding classification of c.703G>A/p.Gly235Arg as a novel missense variant in KRIT1 gene. Hum
                   Mutat 2020;41:1069-71.  DOI  PubMed
               74.      Brunak S, Engelbrecht J, Knudsen S. Prediction of human mRNA donor and acceptor sites from the DNA sequence. J Mol Biol
                   1991;220:49-65.  DOI  PubMed
               75.      Riant F, Odent S, Cecillon M, et al. Deep intronic KRIT1 mutation in a family with clinically silent multiple cerebral cavernous
                   malformations. Clin Genet 2014;86:585-8.  DOI  PubMed
               76.      Spiegler S, Rath M, Hoffjan S, et al. First large genomic inversion in familial cerebral cavernous malformation identified by whole
                   genome sequencing. Neurogenetics 2018;19:55-9.  DOI  PubMed
               77.      Labauge P, Denier C, Bergametti F, Tournier-lasserve E. Genetics of cavernous angiomas. Lancet Neurology 2007;6:237-44.  DOI
                   PubMed
               78.      Spiegler S, Najm J, Liu J, et al. High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria:
                   one-third of probands are minors. Mol Genet Genomic Med 2014;2:176-85.  DOI  PubMed  PMC
               79.      Rath M, Jenssen SE, Schwefel K, et al. High-throughput sequencing of the entire genomic regions of CCM1/KRIT1, CCM2 and
                   CCM3/PDCD10 to search for pathogenic deep-intronic splice mutations in cerebral cavernous malformations. Eur J Med Genet
                   2017;60:479-84.  DOI  PubMed
               80.      Lucas M, Costa AF, Montori M, Solano F, Zayas MD, Izquierdo G. Germline mutations in theCCM1 gene, encoding Krit1, cause
                   cerebral cavernous malformations. Ann Neurol 2001;49:529-32.  PubMed
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