scholarly journals Mutation screening in the FBN1 gene responsible for Marfan syndrome and related disorder in Chinese families

2019 ◽  
Vol 7 (4) ◽  
pp. e00594
Author(s):  
Bo Gong ◽  
Lan Yang ◽  
Qingwei Wang ◽  
Zimeng Ye ◽  
Xiaoxin Guo ◽  
...  
Keyword(s):  
Marfan Syndrome ◽  
Mutation Screening ◽  
Related Disorder ◽  
Chinese Families ◽  
Fbn1 Gene

scholarly journals Mutation screening of the fibrillin-1 (FBN1) gene in 76 unrelated patients with Marfan syndrome or Marfanoid features leads to the identification of 11 novel and three previously reported mutations

2002 ◽  
Vol 20 (5) ◽  
pp. 406-407 ◽  
Author(s):  
Kathrin Rommel ◽  
Matthias Karck ◽  
Axel Haverich ◽  
J�rg Schmidtke ◽  
Mine Arslan-Kirchner
Keyword(s):  
Marfan Syndrome ◽  
Mutation Screening ◽  
Fbn1 Gene ◽  
Fibrillin 1

scholarly journals Unsuspected somatic mosaicism for FBN1 gene contributes to Marfan syndrome

2021 ◽  
Author(s):  
Pauline Arnaud ◽  
Hélène Morel ◽  
Olivier Milleron ◽  
Laurent Gouya ◽  
Christine Francannet ◽  
...  
Keyword(s):  
Marfan Syndrome ◽  
Somatic Mosaicism ◽  
Variant Calling ◽  
Copy Number Variations ◽  
Pathogenic Variant ◽  
Single Nucleotide Variants ◽  
Bioinformatics Analyses ◽  
Single Nucleotide ◽  
Fbn1 Gene ◽  
Pathogenic Variants

Abstract Purpose Individuals with mosaic pathogenic variants in the FBN1 gene are mainly described in the course of familial screening. In the literature, almost all these mosaic individuals are asymptomatic. In this study, we report the experience of our team on more than 5,000 Marfan syndrome (MFS) probands. Methods Next-generation sequencing (NGS) capture technology allowed us to identify five cases of MFS probands who harbored a mosaic pathogenic variant in the FBN1 gene. Results These five sporadic mosaic probands displayed classical features usually seen in Marfan syndrome. Combined with the results of the literature, these rare findings concerned both single-nucleotide variants and copy-number variations. Conclusion This underestimated finding should not be overlooked in the molecular diagnosis of MFS patients and warrants an adaptation of the parameters used in bioinformatics analyses. The five present cases of symptomatic MFS probands harboring a mosaic FBN1 pathogenic variant reinforce the fact that apparently asymptomatic mosaic parents should have a complete clinical examination and a regular cardiovascular follow-up. We advise that individuals with a typical MFS for whom no single-nucleotide pathogenic variant or exon deletion/duplication was identified should be tested by NGS capture panel with an adapted variant calling analysis.

Mutation screening of three Chinese families with genetic epilepsy with febrile seizures plus

2011 ◽  
Vol 500 (2) ◽  
pp. 123-128 ◽  
Author(s):  
Hua Lin ◽  
Jingyun Li ◽  
Mengyang Wang ◽  
Zheng Wang ◽  
Yuping Wang ◽  
...  
Keyword(s):  
Mutation Screening ◽  
Febrile Seizures ◽  
Chinese Families ◽  
Genetic Epilepsy ◽  
Febrile Seizures Plus

scholarly journals Optimising the mutation screening strategy in Marfan syndrome and identifying genotypes with more severe aortic involvement

2020 ◽  
Vol 15 (1) ◽  
Author(s):  
Roland Stengl ◽  
András Bors ◽  
Bence Ágg ◽  
Miklós Pólos ◽  
Gabor Matyas ◽  
...  
Keyword(s):  
Marfan Syndrome ◽  
Single Gene ◽  
Mutation Screening ◽  
Screening Method ◽  
Connective Tissue Disorder ◽  
Screening Strategy ◽  
Gene Panel ◽  
Dominant Negative ◽  
Second Phase ◽  
High Detection Rate

Abstract Background Marfan syndrome (MFS) is a systemic connective tissue disorder with life-threatening manifestations affecting the ascending aorta. MFS is caused by dominant negative (DN) and haploinsufficient (HI) mutations of the FBN1 gene. Our aim was to identify mutations of MFS patients with high detection rate and to investigate the use of a gene panel for patients with Marfanoid habitus. We also aimed to examine correlations between genotype and cardiovascular manifestations to predict “malignant” mutations. Methods 136 individuals were enrolled. In the first phase, next-generation sequencing (NGS) and Sanger sequencing were performed for 57 patients to screen the FBN1 gene, followed by multiplex ligation-dependent probe amplification (MLPA) in negative cases. For repeated negative results, NGS gene panel involving 9 genes was used. In the second phase, 79 patients were tested primarily with the same gene panel, negative samples were tested by MLPA. Results 84 pathogenic mutations were detected, out of which 78 affected FBN1, 6 non-FBN1 mutations (2 TGFB2, 1 TGFBR2, 2 TGFBR1, 1 SMAD3) are associated with Loeys-Dietz syndrome (LDS). LDS patients had lower systemic score and they were younger, but their aortic involvement did not differ. MLPA detected 4 multi-exon deletions of FBN1 gene, which could not be identified by our first-step screening method. Aortic involvement (aortic dissection and/or dilation) did not differ significantly among HI and DN mutations (p = 0.061). Combined group of HI and DN mutations eliminating a disulphide-bonding cysteine (DN Cys) had significantly higher aortic involvement rate than DN mutations not eliminating a disulphide-bonding cysteine (DN non-Cys) (p < 0.001). Patients with DN Cys required significantly more aortic surgeries than HI and DN non-Cys mutations (p = 0.042 and p = 0.015, respectively). Conclusions Due to the relevant number of mutations affecting genes other than FBN1, preferred approach for testing individuals with Marfanoid habitus is using a gene panel rather than single-gene analysis, followed by MLPA for negative samples. DN Cys and HI mutations should be considered as risk factors for aortic involvement. Genetic testing for patients with Marfanoid features and a systemic score under 7 is recommended, as LDS patients may have lower scores, but they may have severe cardiovascular manifestations.

scholarly journals Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families

2017 ◽  
Vol 7 (1) ◽  
Author(s):  
Lulin Huang ◽  
Qi Zhang ◽  
Xin Huang ◽  
Chao Qu ◽  
Shi Ma ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Mutation Screening ◽  
Han Chinese ◽  
Chinese Families

scholarly journals A bioinformatics framework for genotype–phenotype correlation in humans with Marfan syndrome caused by FBN1 gene mutations

2006 ◽  
Vol 39 (2) ◽  
pp. 171-183 ◽  
Author(s):  
Christian Baumgartner ◽  
Gábor Mátyás ◽  
Beat Steinmann ◽  
Martin Eberle ◽  
Jörg I. Stein ◽  
...  
Keyword(s):  
Marfan Syndrome ◽  
Gene Mutations ◽  
Phenotype Correlation ◽  
Fbn1 Gene ◽  
Genotype Phenotype Correlation

scholarly journals Novel mutations of RPGR in Chinese families with X-linked retinitis pigmentosa

2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Zhimeng Zhang ◽  
Hehua Dai ◽  
Lei Wang ◽  
Tianchang Tao ◽  
Jing Xu ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Mutation Screening ◽  
Phenotype Correlation ◽  
Novel Mutations ◽  
Pathological Myopia ◽  
Nonsense Mutations ◽  
Chinese Families ◽  
Coding Regions ◽  
Genotype Phenotype Correlation ◽  
Male Patients

Abstract Background RP (retinitis pigmentosa) is a group of hereditary retinal degenerative diseases. XLRP is a relatively severe subtype of RP. Thus, it is necessary to identify genes and mutations in patients who present with X-linked retinitis pigmentosa. Methods Genomic DNA was extracted from peripheral blood. The coding regions and intron-exon boundaries of the retinitis pigmentosa GTPase regulator (RPGR) and RP2 genes were amplified by PCR and then sequenced directly. Ophthalmic examinations were performed to identify affected individuals from two families and to characterize the phenotype of the disease. Results Mutation screening demonstrated two novel nonsense mutations (c.1541C > G; p.S514X and c.2833G > T; p.E945X) in the RPGR gene. The clinical manifestation of family 1 with mutations in exon 13 was mild. Genotype-phenotype correlation analysis suggested that patients with mutations close to the downstream region of ORF15 in family 2 manifested an early loss of cone function. Family 2 carried a nonsense mutation in ORF15 that appeared to have a semi-dominant pattern of inheritance. All male patients and two female carriers in family 2 manifested pathological myopia (PM), indicating that there may be a distinctive X-linked genotype-phenotype correlation between RP and PM. Conclusions We identified two novel mutations of the RPGR gene, which broadens the spectrum of RPGR mutations and the phenotypic spectrum of the disease in Chinese families.

Mutation analysis of the FBN1 gene in a cohort of patients with Marfan Syndrome: A 10-year single center experience

2020 ◽  
Vol 501 ◽  
pp. 154-164 ◽  
Author(s):  
Liliana Mannucci ◽  
Serena Luciano ◽  
Leila B. Salehi ◽  
Laura Gigante ◽  
Chiara Conte ◽  
...  
Keyword(s):  
Marfan Syndrome ◽  
Mutation Analysis ◽  
Single Center ◽  
Single Center Experience ◽  
Fbn1 Gene
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