ArticleAmerican journal of medical genetics. Part A2012
Studies of TBX4 and chromosome 17q23.1q23.2: an uncommon cause of nonsyndromic clubfoot.
Article in American journal of medical genetics. Part A, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis that pooled it.
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Who cites it
26 citing papers in PubMed, 1 synthesis or guideline pooled it, 44 citations in OpenAlex.
- The etiology of idiopathic congenital talipes equinovarus: a systematic review.Journal of orthopaedic surgery and research · 2018Pooled it
- Multifaceted role of T-box transcription factor 4: From embryonic development to disease pathogenesis.Genes & diseases · 2026Review
- Complex Genomic Rearrangement Involving theHuman mutation · 2026Article
- Prenatal diagnosis and genetic etiology analysis of talipes equinovarus by chromosomal microarray analysis.BMC medical genomics · 2023Article
- Incidence and prevalence of congenital clubfoot in Apulia: a regional model for future prospective national studies.Italian journal of pediatrics · 2023Review
- Molecular Function and Contribution ofAmerican journal of respiratory and critical care medicine · 2023Review
- What Is the Exact Contribution ofGenes · 2022Article
- Exacerbation of mild lung disorders to lethal pulmonary hypoplasia by a noncoding hypomorphic SNV in a lung-specific enhancer in trans to the frameshifting TBX4 variant.American journal of medical genetics. Part A · 2022Article
- Identification and Functional Evaluation of a NovelInternational journal of molecular sciences · 2022Article
- Muscle volume evaluation using 3DCT for congenital clubfoot.Acta radiologica open · 2021Article
- Genetic association and characterization of FSTL5 in isolated clubfoot.Human molecular genetics · 2021Article
- Rare andJournal of medical genetics · 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
- The genetics of isolated and syndromic clubfoot.Journal of children's orthopaedics · 2019Article
- The developmental and genetic basis of 'clubfoot' in the peroneal muscular atrophy mutant mouse.Development (Cambridge, England) · 2018Article
- Identification ofGenetics · 2018Article
- Article
- The 2017 ABJS Nicolas Andry Award: Advancing Personalized Medicine for Clubfoot Through Translational Research.Clinical orthopaedics and related research · 2017Article
- Three novel missense mutations in the filamin B gene are associated with isolated congenital talipes equinovarus.Human genetics · 2016Article
- Functional Assessment of Clubfoot Associated HOXA9, TPM1, and TPM2 Variants Suggests a Potential Gene Regulation Mechanism.Clinical orthopaedics and related research · 2016Article
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Authors and funding
11 authors at 6 institutions in 2 countries.
Funding
Abstract
Clubfoot is a common birth defect characterized by inward posturing and rigid downward displacement of one or both feet. The etiology of syndromic forms of clubfoot is varied and the causes of isolated clubfoot are not well understood. A microduplication of 2.2 Mb on chromosome 17q23.1q23.2 which includes T-box 4 (TBX4), a hindlimb-specific gene, and 16 other genes was recently identified in 3 of 66 families reported as nonsyndromic clubfoot, but additional non-foot malformations place them in the syndromic clubfoot category. Our study assesses whether variation in or around TBX4 contributes to nonsyndromic clubfoot. To determine whether this microduplication was a common cause of nonsyndromic clubfoot, 605 probands (from 148 multiplex and 457 simplex families) with nonsyndromic clubfoot were evaluated by copy number and oligonucleotide array CGH testing modalities. Only one multiplex family (0.68%) that had 16 with clubfoot and 9 with other foot anomalies, had a 350 kb microduplication, which included the complete duplication of TBX4 and NACA2 and partial duplication of BRIP1. The microduplication was transmitted in an autosomal dominant pattern and all with the microduplication had a range of phenotypes from short wide feet and toes to bilateral clubfoot. Minimal evidence was found for an association between TBX4 and clubfoot and no pathogenic sequence variants were identified in the two known TBX4 hindlimb enhancer elements. Altogether, these results demonstrate that variation in and around the TBX4 gene and the 17q23.1q23.2 microduplication are not a frequent cause of this common orthopedic birth defect and narrows the 17q23.1q23.2 nonsyndromic clubfoot-associated region.
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