Edwards MJ, Challinor CJ, Colley PW, Roberts J, Partington MW, Hollway GE, et al. Clinical and linkage study of a large family with simple ectopia lentis linked to FBN1. Am J Med Genet. 1994;53:65–71.
Article CAS PubMed Google Scholar
Adès LC, Holman KJ, Brett MS, Edwards MJ, Bennetts B. Ectopia lentis phenotypes and the FBN1 gene. Am J Med Genet A. 2004;126A:284–9.
Groth KA, Hove H, Kyhl K, Folkestad L, Gaustadnes M, Vejlstrup N, et al. Prevalence, incidence, and age at diagnosis in Marfan syndrome. Orphanet J Rare Dis. 2015;10:153.
Article PubMed PubMed Central Google Scholar
Nuytinck LoeysB, Delvaux L, De Bie I, De Paepe S. A. Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome. Arch Intern Med. 2001;161:2447–54.
Loeys B, De Backer J, Van Acker P, Wettinck K, Pals G, Nuytinck L, et al. Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome. Hum Mutat. 2004;24:140–6.
Article CAS PubMed Google Scholar
Judge DP, Dietz HC. Marfan’s syndrome. Lancet. 2005;366:1965–76.
Article CAS PubMed PubMed Central Google Scholar
Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB, et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet. 2010;47:476–85.
Article CAS PubMed Google Scholar
Faivre L, Gorlin RJ, Wirtz MK, Godfrey M, Dagoneau N, Samples JR, et al. In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome. J Med Genet. 2003;40:34–6.
Article CAS PubMed PubMed Central Google Scholar
Graul-Neumann LM, Kienitz T, Robinson PN, Baasanjav S, Karow B, Gillessen-Kaesbach G, et al. Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3’ terminus of the FBN1-gene. Am J Med Genet A 2010;152A:2749–55.
Article CAS PubMed Google Scholar
Dietz HC, McIntosh I, Sakai LY, Corson GM, Chalberg SC, Pyeritz RE, et al. Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome. Genomics 1993;17:468–75.
Article CAS PubMed Google Scholar
Loeys BL, Gerber EE, Riegert-Johnson D, Iqbal S, Whiteman P, McConnell V, et al. Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome. Sci Transl Med. 2010;2:23ra20.
Article CAS PubMed PubMed Central Google Scholar
Le Goff C, Mahaut C, Wang LW, Allali S, Abhyankar A, Jensen S, et al. Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. Am J Hum Genet. 2011;89:7–14.
Article PubMed PubMed Central Google Scholar
Robinson PN, Booms P, Katzke S, Ladewig M, Neumann L, Palz M, et al. Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies. Hum Mutat. 2002;20:153–61.
Article CAS PubMed Google Scholar
Loeys B. The search for genotype/phenotype correlation in Marfan syndrome: to be or not to be? Eur Heart J. 2016;37:3291–3.
De Backer J, Campens L, Muiño Mosquera L. Looking for the Missing Links: Challenges in the Search for Genotype-Phenotype Correlation in Marfan Syndrome. Circ Genom Precis Med. 2018;11:e002185.
Chen ZX, Chen TH, Zhang M, Chen JH, Lan LN, Deng M, et al. Correlation between FBN1 mutations and ocular features with ectopia lentis in the setting of Marfan syndrome and related fibrillinopathies. Hum Mutat. 2021;42:1637–47.
Article CAS PubMed Google Scholar
Sakai LY, Keene DR, Renard M, De Backer J. FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders. Gene. 2016;176:139–48.
Oka Y, Hamada M, Nakazawa Y, Muramatsu H, Okuno Y, Higasa K, et al. Digenic mutations in ALDH2 and ADH5 impair formaldehyde clearance and cause a multisystem disorder, AMeD syndrome. Sci Adv. 2020;6:eabd7197.
Article CAS PubMed PubMed Central Google Scholar
Rentzsch P, Witten D, Cooper GM, Shendure J, Kircher M. CADD: Predicting the deleteriousness of variants throughout the human genome. Nucleic Acids Res. 2019;47:D886–94.
Article CAS PubMed Google Scholar
Kircher M, Witten DM, Jain P, O’Roak BJ, Cooper GM, Shendure J. A general framework for estimating the relative pathogenicity of human genetic variants. Nat Genet. 2014;46:310–5.
Article CAS PubMed PubMed Central Google Scholar
Chandra A, Aragon-Martin JA, Hughes K, Gati S, Reddy MA, Deshpande C, et al. A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis. Invest Ophthalmol Vis Sci. 2012;53:4889–96.
Article CAS PubMed Google Scholar
Yang GY, Huang X, Chen BJ, Xu ZP. Weill-Marchesani-like syndrome caused by an FBN1 mutation with low-penetrance. Chin Med J. 2021;134:1359–61.
Article CAS PubMed PubMed Central Google Scholar
Chandra A, Patel D, Aragon-Martin JA, Pinard A, Collod-Béroud G, Comeglio P, et al. The revised Ghent nosology; reclassifying isolated ectopia lentis. Clin Genet. 2015;87:284–7.
Article CAS PubMed Google Scholar
Roca X, Olson AJ, Rao AR, Enerly E, Kristensen VN, Børresen-Dale AL, et al. Features of 5′-splice-site efficiency derived from disease-causing mutations and comparative genomics. Genome Res. 2008;18:77–87.
Article CAS PubMed PubMed Central Google Scholar
Corson GM, Chalberg SC, Dietz HC, Charbonneau NL, Sakai LY. Fibrillin binds calcium and is coded by cDNAs that reveal a multidomain structure and alternatively spliced exons at the 5′ end. Genomics. 1993;17:476–84.
Article CAS PubMed Google Scholar
Sengle G, Tsutsui K, Keene DR, Tufa SF, Carlson EJ, Charbonneau NL, et al. Microenvironmental regulation by fibrillin-1. PLoS Genet. 2012;8:e1002425.
Article CAS PubMed PubMed Central Google Scholar
Baldock C, Koster AJ, Ziese U, Rock MJ, Sherratt MJ, Kadler KE, et al. The supramolecular organization of fibrillin-rich microfibrils. J Cell Biol. 2001;152:1045–56.
Article CAS PubMed PubMed Central Google Scholar
Carsana A, Frisso G, Tremolaterra MR, Lanzillo R, Vitale DF, Santoro L, et al. Analysis of dystrophin gene deletions indicates that the hinge III region of the protein correlates with disease severity. Ann Hum Genet. 2005;69:253–9.
Article CAS PubMed Google Scholar
Franken R, Groenink M, De Waard V, Feenstra HM, Scholte AJ, van den Berg MP, et al. Genotype impacts survival in Marfan syndrome. Eur Heart J. 2016;37:3285–90.
Article CAS PubMed Google Scholar
Takeda N, Inuzuka R, Maemura S, Morita H, Nawata K, Fujita D, et al. Impact of Pathogenic FBN1 Variant Types on the Progression of Aortic Disease in Patients With Marfan Syndrome. Circ Genom Precis Med. 2018;11:e002058.
Schrijver I, Liu W, Odom R, Brenn T, Oefner P, Furthmayr H, et al. Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes. Am J Hum Genet. 2002;71:223–37.
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