Pathogenic variants affecting the TB5 domain of the fibrillin-1 protein: not only in geleophysic/acromicric dysplasias but also in Marfan syndrome
Conclusion
Surprisingly, pathogenic variants in the TB5 domain of FBN1 can lead to two opposite phenotypes: GPHYSD/ACMICD and MFS, suggesting the existence of different pathogenic sequences with the involvement of tissue specificity. Further functional studies are ongoing to determine the precise role of this domain in the physiopathology of each disease. (Source: Journal of Medical Genetics)
Source: Journal of Medical Genetics - April 19, 2024 Category: Genetics & Stem Cells Authors: Arnaud, P., Mougin, Z., Baujat, G., Drouin-Garraud, V., El Chehadeh, S., Gouya, L., Odent, S., Jondeau, G., Boileau, C., Hanna, N., Le Goff, C. Tags: Open access Diagnostics Source Type: research
Quantitative measurement of dural ectasia: associations with clinical and genetic characteristics in Marfan syndrome
ConclusionOur study shed further light on the relationship between genotype, dural pathology, and the overall clinical spectrum of MFS. The identification of protein-truncating variants and those impacting cysteine content may therefore suggest closer patient monitoring, in order to address potential complications associated with DE. (Source: European Spine Journal)
Source: European Spine Journal - April 14, 2024 Category: Orthopaedics Source Type: research
FBN2 pathogenic variants in congenital contractural arachnodactyly with severe cardiovascular manifestations
CONCLUSIONS: This study enriched the pathogenic spectrum of CCA and identified a hotspot region in FBN2 gene associated with severe cardiovascular manifestations. We recommend that patients carrying pathogenic variants in exons 31 to 35 of FBN2 pay more attention to cardiac evaluation.PMID:38602424 | DOI:10.1080/03008207.2024.2340004 (Source: Connective Tissue Research)
Source: Connective Tissue Research - April 11, 2024 Category: Research Authors: Shulin Yang Zongzhe Li Source Type: research
Influencing factors of effective lens position in patients with Marfan syndrome and ectopia lentis
CONCLUSION: This study provides novel insights into the origin of PE in patients with MFS and EL and potentially refines existing formulas.PMID:38604620 | DOI:10.1136/bjo-2023-325017 (Source: The British Journal of Ophthalmology)
Source: The British Journal of Ophthalmology - April 11, 2024 Category: Opthalmology Authors: Xin Shen Zexu Chen WanNan Jia Yalei Wang Tianhui Chen Yang Sun Yongxiang Jiang Source Type: research
FBN2 pathogenic variants in congenital contractural arachnodactyly with severe cardiovascular manifestations
CONCLUSIONS: This study enriched the pathogenic spectrum of CCA and identified a hotspot region in FBN2 gene associated with severe cardiovascular manifestations. We recommend that patients carrying pathogenic variants in exons 31 to 35 of FBN2 pay more attention to cardiac evaluation.PMID:38602424 | DOI:10.1080/03008207.2024.2340004 (Source: Connective Tissue Research)
Source: Connective Tissue Research - April 11, 2024 Category: Research Authors: Shulin Yang Zongzhe Li Source Type: research
Influencing factors of effective lens position in patients with Marfan syndrome and ectopia lentis
CONCLUSION: This study provides novel insights into the origin of PE in patients with MFS and EL and potentially refines existing formulas.PMID:38604620 | DOI:10.1136/bjo-2023-325017 (Source: The British Journal of Ophthalmology)
Source: The British Journal of Ophthalmology - April 11, 2024 Category: Opthalmology Authors: Xin Shen Zexu Chen WanNan Jia Yalei Wang Tianhui Chen Yang Sun Yongxiang Jiang Source Type: research
FBN2 pathogenic variants in congenital contractural arachnodactyly with severe cardiovascular manifestations
CONCLUSIONS: This study enriched the pathogenic spectrum of CCA and identified a hotspot region in FBN2 gene associated with severe cardiovascular manifestations. We recommend that patients carrying pathogenic variants in exons 31 to 35 of FBN2 pay more attention to cardiac evaluation.PMID:38602424 | DOI:10.1080/03008207.2024.2340004 (Source: Connective Tissue Research)
Source: Connective Tissue Research - April 11, 2024 Category: Research Authors: Shulin Yang Zongzhe Li Source Type: research
Single-Nucleus Multiomic Analyses Identifies Gene Regulatory Dynamics of Phenotypic Modulation in Human Aneurysmal Aortic Root
Adv Sci (Weinh). 2024 Mar 29:e2400444. doi: 10.1002/advs.202400444. Online ahead of print.ABSTRACTAortic root aneurysm is a potentially life-threatening condition that may lead to aortic rupture and is often associated with genetic syndromes, such as Marfan syndrome (MFS). Although studies with MFS animal models have provided valuable insights into the pathogenesis of aortic root aneurysms, this understanding of the transcriptomic and epigenomic landscape in human aortic root tissue remains incomplete. This knowledge gap has impeded the development of effective targeted therapies. Here, this study performs the first integr...
Source: Adv Data - March 29, 2024 Category: Epidemiology Authors: Xuanyu Liu Qingyi Zeng Hang Yang Wenke Li Qianlong Chen Kunlun Yin Zihang Pan Kai Wang Mingyao Luo Chang Shu Zhou Zhou Source Type: research
Single-Nucleus Multiomic Analyses Identifies Gene Regulatory Dynamics of Phenotypic Modulation in Human Aneurysmal Aortic Root
Adv Sci (Weinh). 2024 Mar 29:e2400444. doi: 10.1002/advs.202400444. Online ahead of print.ABSTRACTAortic root aneurysm is a potentially life-threatening condition that may lead to aortic rupture and is often associated with genetic syndromes, such as Marfan syndrome (MFS). Although studies with MFS animal models have provided valuable insights into the pathogenesis of aortic root aneurysms, this understanding of the transcriptomic and epigenomic landscape in human aortic root tissue remains incomplete. This knowledge gap has impeded the development of effective targeted therapies. Here, this study performs the first integr...
Source: Adv Data - March 29, 2024 Category: Epidemiology Authors: Xuanyu Liu Qingyi Zeng Hang Yang Wenke Li Qianlong Chen Kunlun Yin Zihang Pan Kai Wang Mingyao Luo Chang Shu Zhou Zhou Source Type: research
Enhanced Optic Nerve Expansion and Altered Ultrastructure of Elastic Fibers Induced by Lysyl Oxidase Inhibition in a Mouse Model of Marfan Syndrome
Am J Pathol. 2024 Mar 26:S0002-9440(24)00115-9. doi: 10.1016/j.ajpath.2024.03.002. Online ahead of print.ABSTRACTTwo major constituents of exfoliation material (XFM), fibrillin- 1 and lysyl oxidase-like 1 (encoded by FBN1 and LOXL1) are implicated in exfoliation glaucoma (XFG), yet their individual contributions to ocular phenotype are minor. To test the hypothesis that a combination of FBN1 mutation and LOXL1 deficiency exacerbates ocular phenotypes, pan-LOX inhibitor, β-aminopropionitrile (BAPN) was used to treat adult wild-type (wt) and Fbn1C1041G/+ mice for 8 weeks and their eyes were examined. Although intraocular pr...
Source: The American Journal of Pathology - March 28, 2024 Category: Pathology Authors: Hang-Jing Wu Evan Krystofiak John Kuchtey Rachel W Kuchtey Source Type: research
Enhanced Optic Nerve Expansion and Altered Ultrastructure of Elastic Fibers Induced by Lysyl Oxidase Inhibition in a Mouse Model of Marfan Syndrome
Am J Pathol. 2024 Mar 26:S0002-9440(24)00115-9. doi: 10.1016/j.ajpath.2024.03.002. Online ahead of print.ABSTRACTTwo major constituents of exfoliation material (XFM), fibrillin- 1 and lysyl oxidase-like 1 (encoded by FBN1 and LOXL1) are implicated in exfoliation glaucoma (XFG), yet their individual contributions to ocular phenotype are minor. To test the hypothesis that a combination of FBN1 mutation and LOXL1 deficiency exacerbates ocular phenotypes, pan-LOX inhibitor, β-aminopropionitrile (BAPN) was used to treat adult wild-type (wt) and Fbn1C1041G/+ mice for 8 weeks and their eyes were examined. Although intraocular pr...
Source: Am J Pathol - March 28, 2024 Category: Pathology Authors: Hang-Jing Wu Evan Krystofiak John Kuchtey Rachel W Kuchtey Source Type: research
Enhanced Optic Nerve Expansion and Altered Ultrastructure of Elastic Fibers Induced by Lysyl Oxidase Inhibition in a Mouse Model of Marfan Syndrome
Am J Pathol. 2024 Mar 26:S0002-9440(24)00115-9. doi: 10.1016/j.ajpath.2024.03.002. Online ahead of print.ABSTRACTTwo major constituents of exfoliation material (XFM), fibrillin- 1 and lysyl oxidase-like 1 (encoded by FBN1 and LOXL1) are implicated in exfoliation glaucoma (XFG), yet their individual contributions to ocular phenotype are minor. To test the hypothesis that a combination of FBN1 mutation and LOXL1 deficiency exacerbates ocular phenotypes, pan-LOX inhibitor, β-aminopropionitrile (BAPN) was used to treat adult wild-type (wt) and Fbn1C1041G/+ mice for 8 weeks and their eyes were examined. Although intraocular pr...
Source: The American Journal of Pathology - March 28, 2024 Category: Pathology Authors: Hang-Jing Wu Evan Krystofiak John Kuchtey Rachel W Kuchtey Source Type: research
