Year | Study object | Study type | Inclusion criteria | Exclusion criteria | Race/Ethnicity | Sample size | Method | Gene examined | Association study | Results | Corresponding author |
---|---|---|---|---|---|---|---|---|---|---|---|
2002 | To evaluate the relationship between R279 W mutation in DTDST and occurrence of ICTEV | Family based | ICTEV patients and their families | Associate with other anomalies and syndromes | Hispanic and Nonhispanic White | 125 ICTEV probands and their parents | PCR, Genotyping | DTDST | N | Negative | Jacqueline T. Hecht |
2003 | To investigate possible association between ICTEV and HoxD gene | Family based | ICTEV patients and their families | Homozygous pedigree; Incomplete information | Chinese | 42 ICTEV probands and their parents | PCR, Genotyping, TDT | HoxD | Y | Positive | Shi-Jun Ji |
2004 | To investigate correlation between ICTEV and PAX5, PAX6 and TBX3 | Family based | ICTEV patients and their families | NOS | Chinese | 123 ICTEV probands in 41 nuclear family trios | PCR, Genotyping, TDT | PAX5 PAX6 TBX3 | Y | TBX3 Positive | Hong-wei Ma |
2005 | To study 2q31-33 SNP in ICTEV patients | Family based | ICTEV patients and their families | TEV from other causes | Hispanic and Nonhispanic White | 57 multiplex families and 83 simplex families | PCR, Genotyping | CASP8 CASP10 CFLAR | Y | CASP10 Positive | Jacqueline T. Hecht |
2005 | To study SNPs in HoxD10, HoxD12, HoxD13 and haplotypes distribution in ICTEV pedigree | Family based | ICTEV patients and their families | NOS | Chinese | 125 ICTEV probands | PCR, Genotyping, TDT | HoxD10 HoxD12 HoxD13 | Y | HoxD12 HoxD13 Positive | Chun-lian Jin |
2006 | To explore the association and mutation of GLI3 gene in ICTEV | Family based | ICTEV patients and their families | NOS | Chinese | 271 ICTEV probands and their parents 100 normal controls | PCR, Genotyping, TDT | GLI3 | Y | GLI3 Positive | Chun-lian Jin |
2006 | To study MTHFR C677Tpolymorphism, and maternal periconceptional folic acid supplement use, influenced risk of isolated clubfoot | Family based | ICTEV patients and their families | syndromic TEV | Not specified | 375 case-parent triads | PCR, Genotyping | MTHFR | N | MTHFR Positive | Linda Sharp |
2007 | To analyze SNPs within COL9A1 gene in ICTEV | Family based | ICTEV patients and their families | NOS | Chinese | 252 ICTEV probands in 41 nuclear family trios | PCR, Genotyping, ETDT | COL9A1 | Y | COL9A1 Positive | Chun-lian Jin |
2007 | To test the possible association between NAT2, NAT3 and ICTEV | Family based | ICTEV patients and their families | NOS | Hispanic and Caucasian | 56 extended multiplex families, 57 trios, and 157 Hispanic and 80 white non-Hispanic simplex trios | PCR, Genotyping, PDT, FBAT | NAT2 NAT3 | Y | NAT2 Positive | Jacqueline T. Hecht |
2007 | To study the association between Apoptotic genes and ICTEV | Family based | ICTEV patients and their families | NOS | Hispanic and Caucasian | 170 Caucasian families, 179 Hispanic families | PCR, Genotyping, FBAT, PDT | Casp3 Casp8 Casp9 Casp10 Bid Bcl-2 Apaf1 | Y | Tested genes positive | Jacqueline T. Hecht |
2008 | To study possible association between ICTEV and HoxD | Family based | ICTEV patients and their famliies | Incomplete chart records | Chinese | 65 ICTEV patients 96 members from 32 families | PCR, Genotyping, TDT | HoxA | Y | HoxA Positive | Chun-lian Jin |
2008 | To detect the expressions of COL1A1 mRNA in 20 patients with ICTEV | Case–control | ICTEV patients | NOS | Chinese | 84 ICTEV probands and their parents 100 normal controls | PCR-DGGE, DNA sequencing | COL1A1 | N | COL1A1 Positive | Chun-lian Jin |
2009 | To test the hypothesis that CAND2 and WNT7a mutation associated with ICTEV | Case–control | ICTEV patients | Other syndromes including TEV | Not specified | 256 ICTEV patients and their parents 75 matched controls | PCR, DNA sequencing | CAND2 WNT7a | N | Negative | Jose A. Morcuende |
2009 | To detect the association between DTDST and ICTEV | Case–control | ICTEV patients | Associate with other abnomalies and syndromes | Chinese | 40 ICTEV patients 10 matched controls | RT-PCR, PCR-SSCP | DTDST | N | Positive | WU Xin-le |
2009 | To evaluate the expression level of CD-RAP | Case–control | ICTEV patients | Neuromuscular or syndomic TEV | Chinese | 25 ICTEV patients 5 controls | RT-PCR | CD-RAP | N | Positive | Chun-lian Jin |
2009 | To study HoxA, HoxD and IGFBP3 in patients with ICTEV | Family based | ICTEV patients | Chromosomal abnormality or syndrome | Hispanic and Non-Hispanic White | 179 extended families 331 simplex families 88 trios 144 families for validation | PCR, Genotyping, In Silico | HoxA HoxD IGFBP3 | Y | Tested genes positve Interactions with CASP3 | Jacqueline T. Hecht |
2010 | To study MYH genes in ICTEV patients | Case–control | ICTEV patients | Neuromuscular or other syndrome with TEV | Not Specified | 200 patients 200 controls | PCR, DNA sequencing | MYH 1 MYH 2 MYH 3 MYH 8 | N | MYH genes not directly cause ICTEV | Jose A. Morcuende |
2012 | To assess whether variation in or around TBX4 is a common cause of nonsyndromic clubfoot. | Family based | ICTEV patients and their families | syndromic causes of clubfoot | Hispanic and Non-Hispanic White | 605 families | aCGH, PCR, Genotyping, DNA sequencing | TBX4 | Y | TBX4 variation is not a frequent cause | Jacqueline T. Hecht |
2012 | To interrogate muscle contractile complex genes in ICTEV | Family based and case–control | ICTEV patients and their families | NOS | Hispanic and Non-Hispanic White | 224 multiplex families 357 simplex families | PCR, Genotyping, DNA sequencing | Muscle contractile complex genes | Y | TNNC2 was identified in a validation group | Jacqueline T. Hecht |
2014 | To identify genetic risk factors associated with clubfoot | Case–control | ICTEV patients | Additional birth defects, known genetic, syndromes, developmental delay, mental retardation | Hispanic and non-Hispanic White | 396 ICTEV patients 1000 controls | Microarray genotyping, GWAS association study | Genome | Y | SNPs replication 12q24.31 FOXN3, SORCS1 MMP7/TMEM123 | Christina A Gurnett |