FBN1 Antibody

1. Three novel pathogenic variants were detected. Two of these variants [c.6610T>C; p.(Cys2204Arg) and c.1956T>G; p.(Cys652Trp)], which affect a cysteine residue, were associated with MS with ectopia lentis, whereas the mutation causing a premature stop codon [c.2506delA; p.(Ser836ValfsX10)] leads to a classical MS of a milder phenotype. PMID: 30048161
2. Two rare missense mutations in the fibrillin1 gene associated with atypical cardiovascular manifestations in a Chinese patient affected by Marfan syndrome. PMID: 29845260
3. This study has confirmed or corrected the clinical diagnosis, and enlarged the mutation spectrum of FBN1 and TGFBR2 and confirmed that parental mosaicism may be the cause of the varied phenotypic expression of these connective tissue disorders. The results should be helpful for prenatal diagnosis and genetic counseling. PMID: 30101859
4. Novel FBN1 mutation (p.Cys2672Arg) has been described in a family with inherited Marfan Syndrome. PMID: 28321935
5. A heterozygous mutation c.5284G > A (p.Gly1762Ser) in FBN1 gene was identified in all individuals affected with acromelic dysplasia in three families. PMID: 29191498
6. Results demonstrate that the deleterious mutations in FBN1 largely contribute to pathogenesis of sporadic non-syndromic AD, which expands our knowledge of FBN1 variants and the genetic basis and pathology of AD. PMID: 28973303
7. deletions in FBN1 results in variable phenotypes of Marfan syndrome PMID: 28842177
8. Although causation has not been proven by this report, it certainly raises interest in a mechanistic relationship between FBN1 and left ventricular non-compaction cardiomyopathy. PMID: 27160103
9. Most individuals meeting these criteria have a pathogenic variant in FBN1, usually unique or observed rarely. Individuals with EL alone may also have FBN1 pathogenic variants, and the risk for aortic disease is not well known. We identified a unique cohort of 31 individuals (mean age 29, range 2-78) from nine families ascertained by a proband with EL alone, who had the same FBN1 p.R650C variant PMID: 28941062
10. A missense mutation (c.G6953A:p.C2318Y) and a nonsense mutation (c.C4786T:p.R1596X) were identified in the fibrillin 1 gene. PMID: 28901506
11. Aortic stiffness is increased in Marfan syndrome, independently from fibrillin-1 genotype. PMID: 29210860
12. The overexpression of miR-133b and silence of FBN1 could inhibit the cell proliferative, migratory and invasive abilities of gastric cancer cells, while the influence of down-regulated miR-133b expression and up-regulated FBN1 expression were quite the contrary. PMID: 28582847
13. The N-terminal domain of FBN-1 mediates a bipartite interaction with LTBP1. PMID: 28669633
14. The de novo mutation c.2647T>C (p.Trp883Arg) in FBN1 was identified in a Chinese patient with Marfan syndrome. PMID: 28650953
15. In addition to performing a glucogenic function, asprosin is a centrally acting orexigenic hormone that is a potential therapeutic target in the treatment of both obesity and diabetes. PMID: 29106398
16. We report a case of childhood glaucoma associated with neonatal Marfan syndrome caused by a novel FBN1 mutation. PMID: 28985825
17. Examination of the FBN1 gene showed that the region commonly affected in FBN1-associated lipodystrophy is highly conserved both across the three human fibrillin genes and across genes encoding fibrillin-1 in vertebrates PMID: 27386756
18. Further research is required to quantify these risks and establish appropriate recommendations for cardiovascular imaging, medical management, and prophylactic surgical intervention in individuals with FBN1--related acromelic dysplasia. PMID: 28696036
19. There was a large spectrum of severity of the disease in probands carrying two mutated FBN1 alleles, but none of them presented extremely severe manifestations of Marfan syndrome (MFS)in any system compared with carriers of only one mutated FBN1 allele PMID: 27582083
20. Review of the role of FBN1 mutations in neonatal Marfan syndrome. PMID: 27138491
21. Marfan syndrome patients with FBN1 haploinsufficiency had a more severely affected aortic phenotype, with larger aortic root diameters and a more rapid dilation rate, and tended to have an increased risk of death and dissections compared with patients with a dominant negative mutation. PMID: 28468757
22. FBN-1 is overexpressed in testicular germ cell tumours and especially in germ cell neoplasia in situ PMID: 27487789
23. This report expands the phenotype of patients with 15q11.2 deletion involving FBN1 and its contiguous genes, and suggests a possible role for these other genes in the pathogenesis of the observed unusual clinical signs that are not explained by FBN1 haploinsufficiency. PMID: 27615407
24. Mutation in FBN1 is associated with Marfan syndrome. PMID: 27893734
25. A novel heterozygous missense mutation c.2243 T>G (p.C781W) in exon 19 of FBN1 was identified in 5 family members with autosomal dominant Marfan syndrome. PMID: 25966184
26. Data suggest that FBN1 sequencing should be considered in individuals with familial thoracic aortic aneurysms and dissections (FTAAD) even without significant systemic features of Marfan syndrome (MFS). PMID: 26621581
27. This report broadens the phenotypic spectrum of growth disorders associated with FBN1 mutations. Identical mutations give rise to a wide phenotypic spectrum, ranging from isolated short stature to a more classic picture of GD2 with cardiac involvement, distinct facial dysmorphisms and various skeletal anomalies. PMID: 27245183
28. A subgroup of patients with Marfan syndrome (MFS) who have mutations in exons 24-32 of the FBN1 gene manifests severe atrioventricular valve insufficiency and skeletal problems as early as the neonatal period. These patients usually die in the first 2 years of life, thus a region between exons 24 and 32 of FBN1 is recognized as a critical region for this neonatal form of MFS (nMFS). [review, case reports] PMID: 26796135
29. FBN1 gene mutation is associated with Marfan syndrome. PMID: 27724990
30. Results showed two novel mutations in exon 12 and 50 of FBN1 identified in two Chinese family members with Marfan syndrome (MFS) which may be responsible for cardiovascular manifestations. PMID: 27558095
31. The results expand the FBN1 mutation spectrum and enrich our knowledge of genotype-phenotype correlations. Genetic testing for MFS and its related aortic diseases is increasingly important for early intervention and treatment. PMID: 27234404
32. miR-486-5p induces papillary thyroid carcinoma cell growth inhibition and apoptosis by targeting and suppressing FBN1. PMID: 27133060
33. information of genotype-phenotype correlation owing to FBN1 mutations; the same FBN1 mutation, c. 1633C>T (Arg545Cys), was detected simultaneously in three different cardinal phenotypes (ectopia lentis, aortic dissection and unaffected) within one family. PMID: 27353645
34. The frameshift mutation (c.4921delG, p.glu1641llysFsX9) detected in exon 40 led to a stop codon after the next 8 amino acids. PMID: 26905825
35. Data show that interaction of fibrillin-1 with the bone morphogenetic protein 7 (BMP-7) complex results in a conformational change. PMID: 27059954
36. Myopia was the most frequent ocular involvement. Patients with a premature termination codon mutation revealed to have a smaller risk of ectopia lentis. PMID: 27085269
37. Authors discovered a protein hormone that regulates glucose homeostasis. It is the C-terminal cleavage product of profibrillin (encoded by FBN1). Its absence in humans results in a unique pattern of metabolic dysregulation that includes partial lipodystrophy, accompanied by reduced plasma insulin, while maintaining euglycemia. PMID: 27087445
38. A marked decrease in heart rate variability, documented in the study, may be an important clinical feature in MS patients with confirmed FBN1 mutations. PMID: 26503076
39. The R2726W FBN1 variant is associated with skeletal features of Marfan syndrome. PMID: 26875674
40. This is the first report of ophthalmoplegia in association with stiff skin syndrome. PMID: 26471116
41. New insights into the structure, assembly and biological roles of 10-12 nm connective tissue microfibrils from fibrillin-1 studies. PMID: 27026396
42. Also, expansion of the mutation spectrum in FBN1 will be helpful in genetic counselling for Chinese patients with STAAD. PMID: 26272055
43. Different syndromes are associated with different structural abnormalities in the fibrillin microfibril scaffold and perhaps with specific cellular receptors (mechanosensors). [Review] PMID: 25957947
44. Data suggest that fibrillin-1 and ATP1B3 are binding partners of BST-2; fibrillin-1 (unlike ATP1B3) restricts of HIV-1 replication in a mechanism independent of BST-2. PMID: 26694617
45. Data suggest that MFAP4 (microfibrillar-associated protein 4) binds tropoelastin, fibrillin-1/-2, and elastin cross-linking amino acid desmosine; MFAP4 co-localizes with fibrillin-1-positive fibers; MFAP4 promotes tropoelastin self-assembly. PMID: 26601954
46. Patients with a FBN1 premature termination codon mutation had a more severe musculoskeletal phenotype than patients with an inframe mutation, suggesting the involvement of TGF-beta signaling dysregulation in the pathophysiologic mechanisms. PMID: 25656438
47. These results suggest fundamental differences in the dominant pathogenic mechanisms underlying Marfan syndrome , stiff skin syndrome and the acromelic dysplasias, which give rise to TGFbeta dysregulation associated with these diseases. PMID: 25979247
48. Progressive pathological aortic root enlargement as the result of degeneration of microfibril architecture and consequential loss of extracellular matrix integrity due to fibrillin-1 (FBN1) mutations are commonly diagnosed clinical manifestations of MFS. PMID: 25863307
49. Left ventricular systolic dysfunction in asymptomatic Marfan syndrome patients is related to the severity of the FBN1 gene mutation. PMID: 25901601
50. Data indicate that abnormal fibrillin-1 (FBN1) transcripts were indicated in fibroblasts from patients with the splice site mutation c.4817-2delA and the missense mutation c.A4925G. PMID: 26684006

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HGNC: 3603

OMIM: 102370

KEGG: hsa:2200

STRING: 9606.ENSP00000325527

UniGene: Hs.591133