Genetic investigation of ocular developmental genes in 52 patients with anophthalmia/microphthalmia

Vidya, Nair Gopinathan; Sankaranarayanan, Rajkumar; Vasavada, Abhay R.

doi:10.1080/13816810.2018.1436184

Cited by 14 publications

(2 citation statements)

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“…It can be an isolated finding or part of microphthalmia syndromes (MCOPS types1,2&3), Lenz microphthalmia syndrome, microphthalmia with linear skin defects and anophthalmia-oesophageal-genital syndrome. Cause may include genetic mutations (SOX2, PAX6 FOXE3, OTX2, CHX10 and RAX) (3) , abnormal chromosomes, advanced maternal age, multiple births, low birth weight, TORCH (Toxoplasmosis, Rubella, Cytomegalovirus, Herpes simplex, Listeria, Parvovirus and HIV) infections, drugs (Alcohol, Hydantoin, Thalidomide and Vitamin A deficiency) and vascular disruption with the insults happening from third to eighth week of embryo. Diagnosis is usually clinical, confirmed by Magnetic resonance imaging (MRI) and B SCAN.…”

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confidence: 99%

Vision Insight

Devi¹

2019

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Section: Introductionmentioning

confidence: 99%

Vision Insight

Devi¹

2019

jmscr

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“…In our study on mutation screening in candidate genes for anophthalmia/microphthalmia, we observed a higher frequency of two polymorphisms: FOXE3 -p.Ala170Ala (c.510C>T, rs34082359) and PITX3 -p.Ile95Ile (c.285C>T, rs2281983), in isolated microphthalmia cases as compared to controls. [ 16 ] This prompted us to investigate the association of these polymorphisms in congenital cataract and isolated microphthalmia cases using a larger number of samples. Both these polymorphisms are synonymous and do not change the amino acid sequence.…”

Section: Introductionmentioning

confidence: 99%

Association of FOXE3-p.Ala170Ala and PITX3-p.Ile95Ile polymorphisms with congenital cataract and microphthalmia

Vidya¹,

Ganatra

Vasavada

et al. 2018

J Ophthalmic Vis Res

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Purpose:To investigate the association of FOXE3-p.Ala170Ala (rs34082359) and PITX3-p.Ile95Ile (rs2281983) polymorphisms with congenital cataract and microphthalmia in a western Indian population.Methods:FOXE3-p.Ala170Ala (c.510C>T) and PITX3-p.Ile95Ile (c.285C>T) polymorphisms were genotyped in 561 subjects consisting of 242 cases with congenital cataract, 52 with microphthalmia, and 267 controls using polymerase chain reaction-restriction fragment length polymorphism. Approximately 10% of samples were randomly sequenced for each single nucleotide polymorphism to confirm the genotypes. The prediction of mRNA secondary structure for polymorphism FOXE3-p.Ala170Ala and PITX3-p.Ile95Ile was performed.Results:A significantly high frequency of T allele and a borderline significance in the frequency of TT genotype of FOXE3-p.Ala170Ala was observed in microphthalmia cases, as compared to controls [T allele: OR: [CI] = 1.8 [1.15-2.72], P = 0.0115; TT: OR [CI] = 2.9 [1.14-7.16], P = 0.0291). The frequency of CC genotype was significantly low in microphthalmia cases when compared to controls (CC: OR [CI] = 0.5 [0.24-0.86, P = 0.0150). There was no significant difference in the allele and genotype frequencies of PITX3-p.Ile95Ile between cases and controls. A slight free energy change was observed in the secondary structure of mRNA between the FOXE3-p.Ala170Ala C-allele (-917.60 kcal/mol) and T-allele (-916.80 kcal/mol) and between PITX3-p.Ile95Ile C-allele (-659.80 kcal/mol) and T-allele (-658.40 kcal/mol).Conclusion:The present findings indicate that FOXE3-p.Ala170Ala ‘T’ allele and ‘TT’ genotype could be predisposing factors for microphthalmia while ‘CC’ genotype might play a protective role against it. A reduction in the free energy change associated with FOXE3-p.Ala170Ala ‘T’ allele could further contribute towards disease risk.

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