Genetics Studies, Hereditary & Other Risk Factors with Associated Clubfoot

• Association Between TPM1 Gene Polymorphisms and Idiopathic Congenital Talipes Equinovarus Risk in a Chinese Population 2021 May - Li J, Zhu G, Kang X, Shen X, Chen S, Tang S, Gong Q, Li Y, Xu H.
• Co-occurrence of orofacial clefts and clubfoot phenotypes in a sub-Saharan African cohort: Whole-exome sequencing implicates multiple syndromes and genes 2021 Apr - Gowans LJJ, Al Dhaheri N, Li M, Busch T, Obiri-Yeboah S, Oti AA, Sabbah DK, Arthur FKN, Awotoye WO, Alade AA, Twumasi P, Agbenorku P, Plange-Rhule G, Naicker T, Donkor P, Murray JC, Sobreira NLM, Butali A.
• Analysis OF C677T polymorphism in methylene tetrahydrofolate reductase (MTHFR) gene as a risk factor for congenital talipes equino varus (CTEV) 2020 Nov - Pandey V, Chaturvedi P, Gehlot H, Ali Mahdi A, Singh A, Mahendra M.
• Integrated Bioinformatics Analysis Reveals Potential Pathway Biomarkers and Their Interactions for Clubfoot 2020 Aug - Jing Ding, Zhenpeng Liang, Weijia Feng, Qixun Cai, Ziming Zhang
• Clubfoot deformity in the Solomon Islands: Melanesian versus Polynesian ethnicity, a retrospective cohort study 2020 Aug - Todd MRLC, Kodovaru SS, Antoniou G, Cundy P
• Evaluation of genetic susceptibility of common variants in SOX9 in patients with congenital talipes equinovarus in the Han Chinese population 2020 Jul - Jian Li, Zhi Wang, Dongxu Feng, Wei Wang, Weilou Feng
• Rare and de novo duplications containing SHOX in clubfoot - June 2020 - Brooke Sadler1, Gabe Haller, Lilian Antunes, Momchil Nikolov, Ina Amarillo, Bradley Coe, Matthew B. Dobbs, Christina A. Gurnett
• Whole‑exome sequencing study identifies two novel rare variations associated with congenital talipes equinovarus 2020 Jun - Zhang J, Li S, Ma S, Liu Y, Wang X, Li Y.
• Integrated Bioinformatics Analysis Reveals Potential Pathway Biomarkers and Their Interactions for Clubfoot June 2020 - Jing Ding, Zhenpeng Liang, Weijia Feng, Qixun Cai
• The genetics of isolated and syndromic clubfoot 2019 Jun - Sadler B, Gurnett CA, Dobbs MB
• Expanded Age Indication for Ponseti Method for Correction of Congenital Idiopathic Talipes Equinovarus: A Systematic Review January 2018 - Vijay Digge, Jagannath Desai
• The etiology of idiopathic congenital talipes equinovarus: a systematic review 2018 Aug - Pavone V, Chisari E, Vescio A, Lucenti L, Sessa G, Testa G.
• Genetics of clubfoot; recent progress and future perspectives 2017 Sep - Sulman Basit, Khalid I Khoshhal
• Functional Assessment of Clubfoot Associated HOXA9, TPM1, and TPM2 Variants Suggests a Potential Gene Regulation Mechanism. 2016 July - Weymouth KS, Blanton SH, Powell T, Patel CV, Savill SA, Hecht JT.
• A systematic review of association studies of common variants associated with idiopathic congenital talipes equinovarus (ICTEV) in humans in the past 30 years 2016 Jun - Bi-Cheng Yong, Fu-Xing Xun, Lan-Juan Zhao, Hong-Wen Deng, Hong-Wen Xu
• Three novel missense mutations in the filamin B gene are associated with isolated congenital talipes equinovarus 2016 Oct - Yang H, Zheng Z, Cai H, Li H, Ye X, Zhang X, Wang Z, Fu Q.
• Etiopathogenesis of equinovarus foot malformations Aug 2014 - Bacino CA, Hecht JT.
• Genome-wide association study identifies new disease loci for isolated clubfoot - March 2014 - Tian-Xiao Zhang, Gabe Haller, Peng Lin, David M Alvarado, Jacqueline T Hecht, Susan H Blanton, B Stephens Richards, John P Rice, Matthew B Dobbs, Christina A Gurnett
• Consanguineous marriage and increased risk of idiopathic congenital talipes equinovarus: a case-control study in a rural area 2013 Apr - Sahin O, Yildirim C, Akgun RC, Haberal B, Yazici AC, Tuncay IC.
• Copy number analysis of 413 isolated talipes equinovarus patients suggests role for transcriptional regulators of early limb development 2012 August - David M Alvarado, Jillian G Buchan, Steven L Frick, John E Herzenberg, Matthew B Dobbs, Christina A Gurnett
• SOX9 overexpression plays a potential role in idiopathic congenital talipes equinovarus 2013 Mar - Wang Z, Yan N, Liu L, Cao D, Gao M, Lin C, Jin C.
• Possible role of GLI3 gene in the pathogenesis of idiopathic congenital talipes equinovarus 2012 Jun - Cao DH, Zhang X, Lin CK, Jin CL.
• Pitx1 haploinsufficiency causes clubfoot in humans and a clubfoot-like phenotype in mice - October 2011 - David M. Alvarado,1 Kevin McCall, Hyuliya Aferol, Matthew J. Silva, Joel R. Garbow, William M. Spees, Tarpit Patel, Marilyn Siegel, Matthew B. Dobbs, and Christina A. Gurnett
• Congenital talipes equinovarus--family occurrence Sep 2011 - Ewa Kołecka, Kryspin Ryszard Niedzielski, Zbigniew Cukras, Małgorzata Piotrowicz
• Parental consanguinity and associated factors in congenital talipes equinovarus 2011 Sep - T Sreenivas 1, A R Nataraj
• Familial Isolated Clubfoot Is Associated with Recurrent Chromosome 17q23.1q23.2 Microduplications Containing TBX - July 2010 - David M. Alvarado, Hyuliya Aferol, Kevin McCall, Jason B. Huang, Matthew Techy, Jillian Buchan, Janet Cady, Patrick R. Gonzales, Matthew B. Dobbs, and Christina A. Gurnett
• Congenital talipes equinovarus in Papua New Guinea: a difficult yet potentially manageable situation 2009 Apr - A D Culverwell, C R Tapping
• Impact of congenital talipes equinovarus etiology on treatment outcomes 2008 Jul - Christina A Gurnett, Stephanie Boehm, Anne Connolly, Tyler Reimschisel, Matthew B Dobbs
• Apoptotic gene analysis in idiopathic talipes equinovarus (clubfoot) 2007 Sep - Audrey R Ester, Gayle Tyerman, Carol A Wise, Susan H Blanton, Jacqueline T Hecht
• NAT2 variation and idiopathic talipes equinovarus (clubfoot) 2007 Oct - Hecht JT, Ester A, Scott A, Wise CA, Iovannisci DM, Lammer EJ, Langlois PH, Blanton SH.
• Pedigree analysis and epidemiological features of idiopathic congenital talipes equinovarus in the United Kingdom: a case-control study 2007 Jul - A H Cardy, S Barker, D Chesney, L Sharp, N Maffulli, Z Miedzybrodzka
• Association and mutation analysis of GLI3 gene in idiopathic congenital talipes equinovarus 2006 Oct - Zhang X, Jin CL, Liu LY, Zhao N, Zhang LJ, Ji SJ, Sun KL.
• Variation in CASP10 gene is associated with idiopathic talipes equinovarus 2005 Sep - Heck AL, Bray MS, Scott A, Blanton SH, Hecht JT.
• Analysis of association between 5' HOXD gene and idiopathic congenital talipes equinovarus 2005 Dec - Wang LL, Jin CL, Liu LY, Zhang X, Ji SJ, Sun KL.
• Genetics of club foot in Maori and Pacific people Sept 2000 - Cyril Chapmana, N Susan Stottb, Ramari Viola Portc, Richard O Nicolb
• Epidemiology and genetic theories in the etiology of congenital talipes equinovarus 1999 - Chesney D, Barker S, Miedzybrodzka Z, Haites N, Maffulli N.
• Congenital talipes in Malaysian neonates: incidence, pattern and associated factors 1990 Dec Boo NY, Ong LC.

Associated Risk Factors (potential)

• Association between maternal age at conception and risk of idiopathic clubfoot 2016 Jun - Yu-Bin Liu, Li Zhao, Jing Ding, Jie Zhu, Cheng-Long Xie, Zhen-Kai Wu, Xuan Yang, Hai Li
• Smoking, the xenobiotic pathway, and clubfoot 2011 Jan - Sommer A, Blanton SH, Weymouth K, Alvarez C, Richards BS, Barnes D, Hecht JT.
• Maternal smoking and the risk for clubfoot in infants 2008 Feb - Dickinson KC, Meyer RE, Kotch J.
• Family history, maternal smoking, and clubfoot: an indication of a gene-environment interaction Oct 2000 - Honein MA, Paulozzi LJ, Moore CA.