Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics.
Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristics.
This study investigates whether a common polymorphism in the PITX3 gene (rs2281983), which is of importance for the function of dopaminergic neurons, affects the risk of developing dementia in PD and whether it affects dopamine transporter (DAT) uptake.
Subgroup analysis of early onset PD (EOPD) and late onset PD (LOPD) revealed that the rs2281983 allele C and rs4919621 allele A were significantly associated with the risk of PD (all of the P values were ≤ 0.0001) in EOPD population.
Several studies have indicated that three PITX3 single nucleotide polymorphisms (SNPs), rs2281983, rs4919621 and rs3758549, are likely to be associated with Parkinson's disease (PD) in Caucasians.
We did not identify any mutations except rs2281983, but when we extended the analysis of rs2281983 and 2 intron variants (rs4919621 and rs3758549) in 336 patients with Parkinson's disease and 244 controls, we found that rs2281983 and rs4919621 appeared to confer susceptibility to Parkinson's disease, especially in early-onset Parkinson's disease and familial Parkinson's disease.
Recent association studies indicated that three PITX3 single nucleotide polymorphisms (SNPs), including rs2281983, rs4919621, and rs3758549 are likely to be associated with PD.
We did not identify any mutations except rs2281983, but when we extended the analysis of rs2281983 and 2 intron variants (rs4919621 and rs3758549) in 336 patients with Parkinson's disease and 244 controls, we found that rs2281983 and rs4919621 appeared to confer susceptibility to Parkinson's disease, especially in early-onset Parkinson's disease and familial Parkinson's disease.
Several studies have indicated that three PITX3 single nucleotide polymorphisms (SNPs), rs2281983, rs4919621 and rs3758549, are likely to be associated with Parkinson's disease (PD) in Caucasians.
In Family 5, the c.38G>A (p.Ser13Asn) mutation segregated dominantly in a family with Peters anomaly, which is a novel phenotype associated with the c.38G>A variant compared with the previously reported isolated congenital cataract.