ArticleBMC medical genetics2016
Whole exome sequencing identifies a novel missense FBN2 mutation co-segregating in a four-generation Chinese family with congenital contractural arachnodactyly.
Article in BMC medical genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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.
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Who cites it
8 citing papers in PubMed, 10 citations in OpenAlex.
- Two Novel FBN2 Variants Causing Congenital Contractural Arachnodactyly.Genetics research · 2026Article
- FBN2 pathogenic mutation in congenital contractural arachnodactyly with severe skeletal manifestations.Molecular genetics and metabolism reports · 2025Article
- Missense variants ofMolecular genetics and metabolism reports · 2024Article
- A Novel Splice Site Mutation in the FBN2 Gene in a Chinese Family with Congenital Contractural Arachnodactyly.Biochemical genetics · 2024Article
- Identification of a HOXD13 variant in a Mongolian family with incomplete penetrance syndactyly by exon sequencing.BMC medical genomics · 2022Article
- Identification of NovelFrontiers in genetics · 2022Article
- A novelClinical case reports · 2018Article
- Comparative iTRAQ proteomics revealed proteins associated with horn development in yak.Proteome science · 2018Article
Corrections and comments
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Authors and funding
15 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCongenital contractural arachnodactyly (CCA) is an autosomal dominant rare genetic disease, estimated to be less than 1 in 10,000 worldwide. People with this condition often have permanently bent joints (contractures), like bent fingers and toes (camptodactyly). CASE PRESENTATION: In this study, we investigated the genetic aetiology of CCA in a four-generation Chinese family. The blood samples were collected from 22 living members of the family in the Yangquan County, Shanxi Province, China. Of those, eight individuals across 3 generations have CCA. Whole exome sequencing (WES) identified a missense mutation involving a T-to-G transition at position 3229 (c.3229 T > G) in exon 25 of the FBN2 gene, resulting in a Cys 1077 to Gly change (p.C1077G). This previously unreported mutation was found in all 8 affected individuals, but absent in 14 unaffected family members. SIFT/PolyPhen prediction and protein conservation analysis suggest that this novel mutation is pathogenic. Our study extended causative mutation spectrum of FBN2 gene in CCA patients.
conclusionsThis study has identified a novel missense mutation in FBN2 gene (p.C1077G) resulting in CCA in a family of China.
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