ArticleAmerican journal of human genetics1993
A single-gene explanation for the probability of having idiopathic talipes equinovarus.
Article in American journal of human genetics, 1993. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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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
21 citing papers in PubMed.
- Exome sequencing of 1190 non-syndromic clubfoot cases revealsJournal of medical genetics · 2024Article
- The developmental and genetic basis of 'clubfoot' in the peroneal muscular atrophy mutant mouse.Development (Cambridge, England) · 2018Article
- [Ponseti method for treatment of idiopathic clubfoot].Operative Orthopadie und Traumatologie · 2016Review
- A systematic review of association studies of common variants associated with idiopathic congenital talipes equinovarus (ICTEV) in humans in the past 30 years.SpringerPlus · 2016Review
- The embryonic myosin R672C mutation that underlies Freeman-Sheldon syndrome impairs cross-bridge detachment and cycling in adult skeletal muscle.Human molecular genetics · 2015Article
- Heritability of clubfoot: a twin study.Journal of children's orthopaedics · 2014Article
- Copy number analysis of 413 isolated talipes equinovarus patients suggests role for transcriptional regulators of early limb development.European journal of human genetics : EJHG · 2013Article
- Studies of TBX4 and chromosome 17q23.1q23.2: an uncommon cause of nonsyndromic clubfoot.American journal of medical genetics. Part A · 2012Article
- Article
- [Congenital clubfoot].Der Orthopade · 2010Article
- Altered transmission of HOX and apoptotic SNPs identify a potential common pathway for clubfoot.American journal of medical genetics. Part A · 2009Article
- The expression of Gli3, regulated by HOXD13, may play a role in idiopathic congenital talipes equinovarus.BMC musculoskeletal disorders · 2009Article
- Update on clubfoot: etiology and treatment.Clinical orthopaedics and related research · 2009Review
- The association between idiopathic clubfoot and increased internal hip rotation.Clinical orthopaedics and related research · 2009Article
- Evaluation of CAND2 and WNT7a as candidate genes for congenital idiopathic clubfoot.Clinical orthopaedics and related research · 2009Article
- Polygenic threshold model with sex dimorphism in clubfoot inheritance: the Carter effect.The Journal of bone and joint surgery. American volume · 2008Article
- Variation in WNT7A is unlikely to be a cause of familial congenital talipes equinovarus.BMC medical genetics · 2008Article
- Pedigree analysis and epidemiological features of idiopathic congenital talipes equinovarus in the United Kingdom: a case-control study.BMC musculoskeletal disorders · 2007Article
- A search for the gene(s) predisposing to idiopathic clubfoot.Clinical genetics · 2005Article
- Genetics of club foot in Maori and Pacific people.Journal of medical genetics · 2000Article
Corrections and comments
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Authors and funding
4 authors.
Funding
Abstract
It has been hypothesized that the pathogenesis of idiopathic talipes equinovarus (ITEV, or clubfoot) is explained by genetic regulation of development and growth. The objective of the present study was to determine whether a single Mendelian gene explains the probability of having ITEV in a sample of 143 Caucasian pedigrees from Iowa. These pedigrees were ascertained through probands with ITEV. Complex segregation analyses were undertaken using a regressive logistic model. The results of these analyses strongly rejected the hypotheses that the probability of having ITEV in these pedigrees was explained by a non-Mendelian pattern of transmission with residual sibling correlation, a nontransmitted (environmental) factor with residual sibling correlation, or residual sibling correlation alone. These results were consistent with the hypothesis that the probability of having ITEV was explained by the Mendelian segregation of a single gene with two alleles plus the effects of some unmeasured factor(s) shared among siblings. The segregation of alleles at this single Mendelian gene indicated that the disease allele A was incompletely dominant to the nondisease allele B. The disease allele A, associated with ITEV affection, was estimated to occur in the population of inference with a frequency of .007. After adjusting for sex-specific population incidences of ITEV, the conditional probability (penetrance) of ITEV affection given the AA, AB, and BB genotypes was computed to be 1.0, .039, and .0006, respectively. Individual pedigrees in this sample that most strongly supported the single Mendelian gene hypothesis were identified. These pedigrees are candidates for genetic linkage analyses or DNA association studies.
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8213831PMC1682321What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.