ArticlePloS one2016
Exome Sequencing of a Pedigree Reveals S339L Mutation in the TLN2 Gene as a Cause of Fifth Finger Camptodactyly.
Article in PloS one, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 13 citations in OpenAlex.
- Conservative Treatment of Camptodactyly with use of Orthoses: A Retrospective Cohort.Revista brasileira de ortopedia · 2024Article
- Talin variant P229S compromises integrin activation and associates with multifaceted clinical symptoms.Human molecular genetics · 2022Article
- Rare clinical phenotype of filaminopathy presenting as restrictive cardiomyopathy and myopathy in childhood.Orphanet journal of rare diseases · 2022Article
- Long-read assembly of the Chinese rhesus macaque genome and identification of ape-specific structural variants.Nature communications · 2019Article
- The tale of two talins - two isoforms to fine-tune integrin signalling.FEBS letters · 2018Review
- Mechanical unfolding reveals stable 3-helix intermediates in talin and α-catenin.PLoS computational biology · 2018Article
- Identification of a novel RPGRIP1 mutation in an Iranian family with leber congenital amaurosis by exome sequencing.Journal of cellular and molecular medicine · 2018Article
- The molecular basis of talin2's high affinity toward β1-integrin.Scientific reports · 2017Article
- Talin2-mediated traction force drives matrix degradation and cell invasion.Journal of cell science · 2016Article
Corrections and comments
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Authors and funding
12 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Camptodactyly is a digit deformity characterized by permanent flexion contracture of one or both fifth fingers at the proximal interphalangeal joints. Though over 60 distinct types of syndromic camptodactyly have been described, only one disease locus (3q11.2-q13.12) for nonsyndromic camptodactyly has been identified. To identify the genetic defect for camptodactyly in a four-generation Chinese Han family, exome and Sanger sequencings were conducted and a missense variant, c.1016C>T (p.S339L), in the talin 2 gene (TLN2) was identified. The variant co-segregated with disease in the family and was not observed in 12 unaffected family members or 1,000 normal controls, suggesting that p.S339L is a pathogenic mutation. Two asymptomatic carriers in the family indicated incomplete penetrance or more complicated compensated mechanism. Most of p.S339L carriers also have relatively benign cardiac phenotypes. Expression of wild and mutant TLN2 in HEK293 cells suggested the predominant localization in cytoplasm. Our data suggest a potential molecular link between TLN2 and camptodactyly pathogenesis.
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