4] Human genes: CFH, complement factor H; LOXL1, lysyl oxidase-like 1; TCF7L2, transcription factor 7-like 2 (T-cell specific, HMG-box); INSIG2, insulin-induced gene 2; FTO, fat mass and obesity associated; HMGA2, high-mobility group AT-hook 2; GDFS, growth differentiation factor 5; UQCC, ubiquinol-cytochrome c reductase complex chaperone, CBP3 homolog (yeast); CDKN2A, cyclin-dependent kinase inhibitor 2A (melanoma, p 16, inhibits CDK4); CDKN28, cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4); PITX2
, paired-like homeodomain 2; IL23R, interleukin-23 receptor; ATG16L1, ATG16 autophagy-related 16-like 1 (S.
Many ASD abnormalities are comparable to those seen in humans with Axenfeld-Reiger syndrome, which has been linked to mutations in the gene encoding the transcription factor, PITX2
(paired-like homeodomain transcription factor 2).
Missense mutations in R31 have been found in the human homeobox genes PITX2, MSXI, MSX2, LMX1B, and HOXD13 and are associated with 5 different developmental diseases: iridogoniodysgenesis syndrome, tooth agenesis, enlarged parietal foramina, nail-patella syndrome, and several digital anomalies, respectively (18, 19).
Variation in residual PITX2 activity underlies the phenotypic spectrum of anterior segment developmental disorders.
To date, RS has been associated with the genes PITX2
on chromosome 4825 [Semina et al.
From a total of 117 candidate markers that were analysed using Epigenomics' biochip, the DNA methylation status of the PITX2 gene was most strongly correlated with disease reccurrence.
In this cohort, 90% of the group with low PITX2 methylation were metastasis-free after 10 years, whereas only 65% of the group with high methylation had remained metastasis-free.