Evidence map›Paper›PMID 30838813›Full record

ArticleMolecular genetics & genomic medicine2019

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

Bo Gong, Lan Yang, Qingwei Wang, Zimeng Ye, Xiaoxin Guo, Chen Yang, Fang Hao, Yi Shi, Yi Huang, Chao Qu and 1 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
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Article in Molecular genetics & genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.5field-weighted citation impact, top 28% of its field
1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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3 · Its place in the literature

Who cites it

4 citing papers in PubMed, 5 citations in OpenAlex.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors at 2 institutions in 2 countries.

Bo GongSichuan Provincial Key Laboratory for Disease Gene Study and Department of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.ORCID 0000-0003-2763-6829
Lan YangDepartment of Ophthalmology, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.
Qingwei WangSichuan Provincial Key Laboratory for Disease Gene Study and Department of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.
Zimeng YeSchool of Medicine, Dentistry and Health Sciences, The University of Melbourne, Melbourne, Victoria, Australia.
Xiaoxin GuoSichuan Provincial Key Laboratory for Disease Gene Study and Department of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.
Chen YangSichuan Provincial Key Laboratory for Disease Gene Study and Department of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.
Fang HaoSichuan Provincial Key Laboratory for Disease Gene Study and Department of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.
Yi ShiSichuan Provincial Key Laboratory for Disease Gene Study and Department of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.
Yi HuangSichuan Provincial Key Laboratory for Disease Gene Study and Department of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.
Chao QuInstitute of Chengdu Biology, Sichuan Translational Medicine Hospital, Chinese Academy of Sciences, Chengdu, Sichuan, China.
Zhenglin YangSichuan Provincial Key Laboratory for Disease Gene Study and Department of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.
University of Electronic Science and Technology of China · CNThe University of Melbourne · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundPrevious studies showed that the fibrillin-1 gene (FBN1) is responsible for Marfan sydrome (MFS) pathogenesis. This study is conducted to screen for mutations in the FBN1 gene in Chinese families with MFS.

methodsEight families with MFS and related disorder were recruited in this study. All available family members underwent complete physical, ophthalmic, and cardiovascular examination. Mutation screening was performed using targeted next-generation sequencing. Candidate variants were amplified by polymerase chain reaction and verified by direct Sanger sequencing.

resultsFour novel heterozygous mutations in FBN1, including c.2861G>T (p.R954L), c.4087G>A (p.D1363N), c.4987T>G (p.C1663G), and c.5032T>G (p.Y1678D), as well as four known mutations, c.3617G>A (p.G1206D), c.4460A>G (p.D1487G), c.4588C>T (p.R1530C), and c.718C>T (p.R240C) were identified. Affected patients from each family were found to carry one of the mutations, whereas the unaffected members and 1,086 normal controls were not. Each mutation was found to be cosegregated with MFS phenotype and related disorder in each family. Multiple sequence alignment of the human fibrillin-1 protein showed that these mutations occurred in a highly conserved region among different species.

conclusionsEight FBN1 mutations were identified in Chinese families with MFS and related disorder. These data expands FBN1 mutation spectrum and further emphasizes the role of FBN1 in the pathogenesis of MFS.

Indexed as

Genetic Carrier ScreeningMutationAdipokinesAdolescentAdultChildChild, PreschoolChinaFemaleFibrillin-1HumansMaleMarfan SyndromeMiddle AgedPedigreeAdipokinesFBN1 protein, humanFibrillin-1fibrillin-1 (FBN1)heterozygous mutationMarfan syndrome (MFS)targeted next-generation sequencing (NGS)

Identifiers

PMID30838813
PMCPMC6465674
OpenAlexW2922149358

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