ArticleEuropean journal of human genetics : EJHG2013
Copy number analysis of 413 isolated talipes equinovarus patients suggests role for transcriptional regulators of early limb development.
Article in European journal of human genetics : EJHG, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 46 citations in OpenAlex.
- The etiology of idiopathic congenital talipes equinovarus: a systematic review.Journal of orthopaedic surgery and research · 2018Pooled it
- Exome sequencing of 1190 non-syndromic clubfoot cases revealsJournal of medical genetics · 2024Article
- 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
- Whole exome sequencing improves genetic diagnosis of fetal clubfoot.Human genetics · 2023Article
- What Is the Exact Contribution ofGenes · 2022Article
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- SHFLD3 phenotypes caused by 17p13.3 triplication/ duplication encompassing Fingerin (BHLHA9) invariably.Orphanet journal of rare diseases · 2022Article
- JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome.Genetics in medicine : official journal of the American College of Medical Genetics · 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
- Familial segregation of a 5q15-q21.2 deletion associated with facial dysmorphism and speech delay.Clinical case reports · 2019Article
- Missense variants in the chromatin remodelerJournal of medical genetics · 2018Article
- The 2017 ABJS Nicolas Andry Award: Advancing Personalized Medicine for Clubfoot Through Translational Research.Clinical orthopaedics and related research · 2017Article
- Deletions of 5' HOXC genes are associated with lower extremity malformations, including clubfoot and vertical talus.Journal of medical genetics · 2016Article
- Are copy number variants associated with adolescent idiopathic scoliosis?Clinical orthopaedics and related research · 2014Article
- Copy number variation in the horse genome.PLoS genetics · 2014Article
- Multiplexed direct genomic selection (MDiGS): a pooled BAC capture approach for highly accurate CNV and SNP/INDEL detection.Nucleic acids research · 2014Article
Corrections and comments
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Authors and funding
6 authors at 4 institutions in 1 country.
Funding
Abstract
Talipes equinovarus is one of the most common congenital musculoskeletal anomalies and has a worldwide incidence of 1 in 1000 births. A genetic predisposition to talipes equinovarus is evidenced by the high concordance rate in twin studies and the increased risk to first-degree relatives. Despite the frequency of isolated talipes equinovarus and the strong evidence of a genetic basis for the disorder, few causative genes have been identified. To identify rare and/or recurrent copy number variants, we performed a genome-wide screen for deletions and duplications in 413 isolated talipes equinovarus patients using the Affymetrix 6.0 array. Segregation analysis within families and gene expression in mouse E12.5 limb buds were used to determine the significance of copy number variants. We identified 74 rare, gene-containing copy number variants that were present in talipes equinovarus probands and not present in 759 controls or in the Database of Genomic Variants. The overall frequency of copy number variants was similar between talipes equinovarus patients compared with controls. Twelve rare copy number variants segregate with talipes equinovarus in multiplex pedigrees, and contain the developmentally expressed transcription factors and transcriptional regulators PITX1, TBX4, HOXC13, UTX, CHD (chromodomain protein)1, and RIPPLY2. Although our results do not support a major role for recurrent copy number variations in the etiology of isolated talipes equinovarus, they do suggest a role for genes involved in early embryonic patterning in some families that can now be tested with large-scale sequencing methods.
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