Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A Novel Mutation of the FBN1 Gene in a Chinese Family With Marfan Syndrome and Unanticipated Discoveries of Family Members.

Genetics research - 1 Jan 2026

Shi Hang, Han Xuejian, Xing Shukai, Zhao Yuetong, Wang Yanyan, Yun Mengtao, Lou Yang, Cui Xiaobo, Wang Baichun, Meng Xiangning

Abstract excerpt

Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder caused by pathogenic variants in the FBN1 gene. Using whole-exome sequencing (WES) in a Chinese MFS family, we identified a novel heterozygous nonsense variant FBN1:c.1415dup;p.(Tyr472Ter), which cosegregates with the disease phenotype and results in protein truncation. Immunohistochemical analysis confirmed markedly reduced fibrillin-1...

Read the complete abstract on PubMed

Topics

Adult
Child
Female
Humans
Male
Middle Aged
Adipokines

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Exome Sequencing

Fibrillin-1

Marfan Syndrome

Mutation

Pedigree

Phenotype

East Asian People

Source

Open in PubMed Open full text

Identifiers

PMID: 42773793
DOI: 10.1155/genr/7350256
PMCID: PMC13598443

Genes

FBN1
LDLR
FH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A Novel Mutation of the FBN1 Gene in a Chinese Family With Marfan Syndrome and Unanticipated Discoveries of Family Members.PMID 42773793Read ↗

Combining clinical examination with exome sequencing for the diagnosis and treatment of Marfan syndrome: a case series of 6 families from China.Semantic proximity Read ↗

Targeted next-generation sequencing reveals the genetic mechanism of Chinese Marfan syndrome cohort with ocular manifestation.Semantic proximity Read ↗

Next-generation sequencing identifies novel mutations in the FBN1 gene for two Chinese families with Marfan syndrome.Semantic proximity Read ↗

A novel FBN1 heterozygous mutation identified in a Chinese family with autosomal dominant Marfan syndrome.Semantic proximity Read ↗

A novel FBN1 mutation causes autosomal dominant Marfan syndrome.Semantic proximity Read ↗

Genetic testing of the FBN1 gene in Chinese patients with Marfan/Marfan-like syndrome.Semantic proximity Read ↗

Overcoming challenges associated with identifying FBN1 deep intronic variants through whole-genome sequencing.Semantic proximity Read ↗

Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies.Semantic proximity Read ↗

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

A novel fibrillin-1 gene missense mutation associated with neonatal Marfan syndrome: a case report and review of the mutation spectrum.Semantic proximity Read ↗

Identification of a novel FBN1 gene mutation in a Chinese family with Marfan syndrome.Semantic proximity Read ↗

Marfan syndrome: whole-exome sequencing reveals de novo mutations, second gene and genotype-phenotype correlations in the Chinese population.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.