ArticleHuman genetics2016
Three novel missense mutations in the filamin B gene are associated with isolated congenital talipes equinovarus.
Article in Human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 2 of them syntheses that pooled it.
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Who cites it
16 citing papers in PubMed, 2 syntheses or guidelines pooled it, 29 citations in OpenAlex.
- The molecular genetics of human appendicular skeleton.Molecular genetics and genomics : MGG · 2022Pooled it
- The etiology of idiopathic congenital talipes equinovarus: a systematic review.Journal of orthopaedic surgery and research · 2018Pooled it
- MiRNA Expression Profile as a Potential Biomarker for Idiopathic Congenital Talipes Equinovarus: An Exploratory Study.Orthopedic reviews · 2026Article
- Integrating intrinsic musculoskeletal pathology and genetics: Recent advances in unravelling the causative factors of adolescent idiopathic scoliosis.Bone reports · 2025Review
- Prenatal Counseling for Congenital Clubfoot.Journal of the Pediatric Orthopaedic Society of North America · 2024Review
- Exome sequencing of 1190 non-syndromic clubfoot cases revealsJournal of medical genetics · 2024Article
- A Stop-gain Variant c.220C>T (p.(Gln74*)) inThe Yale journal of biology and medicine · 2023Review
- Whole exome sequencing improves genetic diagnosis of fetal clubfoot.Human genetics · 2023Article
- Article
- Co-occurrence of orofacial clefts and clubfoot phenotypes in a sub-Saharan African cohort: Whole-exome sequencing implicates multiple syndromes and genes.Molecular genetics & genomic medicine · 2021Article
- The relationship between isolated pes equinovarus and aneuploidies and perinatal outcomes: Results of a tertiary center.Turkish journal of obstetrics and gynecology · 2020Article
- Integrated Bioinformatics Analysis Reveals Potential Pathway Biomarkers and Their Interactions for Clubfoot.Medical science monitor : international medical journal of experimental and clinical research · 2020Article
- Exome sequencing analysis identifies frequent oligogenic involvement andJournal of medical genetics · 2020Article
- The genetics of isolated and syndromic clubfoot.Journal of children's orthopaedics · 2019Article
- Piepkorn type of osteochondrodysplasia: Defining the severe end of FLNB-related skeletal disorders in three fetuses and a 106-year-old exhibit.American journal of medical genetics. Part A · 2018Article
- The developmental and genetic basis of 'clubfoot' in the peroneal muscular atrophy mutant mouse.Development (Cambridge, England) · 2018Article
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital talipes equinovarus (CTEV) is one of the most common musculoskeletal disorders. Genetic factors have been suggested to be an important contributor to its pathogenesis. Some genes, including PITX1, TBX4, and RBM10, have been associated with CTEV. We aimed to determine the disease-causing mutations in Chinese patients with isolated CTEV. Genomic DNA was extracted from peripheral blood samples of a three-generation pedigree and 53 sporadic patients with CTEV. Whole-exome sequencing and Sanger sequencing were used to identify and validate disease-causing mutations, respectively. A putative pathogenic mutation c.4717G>T (p.D1573Y) in the filamin B (FLNB) gene, which co-segregated with CETV, was identified in the pedigree. Two additional novel missense mutations in the same gene [c.1897A>G (p.M633V) and c.2195A>G (p.Y732C)] were identified from the 53 sporadic patients. Plasmids expressing wild-type or mutant constructs were transfected into HEK293T cells to determine whether these amino acid substitutions affect protein activity. All three (M633V, Y732C, and D1573Y) affected FLNB protein expression and led to cytoplasmic focal accumulation. Our results provide evidence for the involvement of FLNB in the pathogenesis of isolated CTEV and have expanded the clinical spectrum of FLNB mutations.
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