PAX6 molecular analysis and genotype-phenotype correlations in families with aniridia from Australasia and Southeast Asia
Aniridia is a congenital disorder caused by variants in the gene. In this study, we assessed the involvement of in patients with aniridia from Australasia and Southeast Asia. Twenty-nine individuals with aniridia from 18 families originating from Australia, New Caledonia, Cambodia, Sri Lanka, and Bh...
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Veröffentlicht in: | Molecular vision 2018-03, Vol.24, p.261-273 |
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Zusammenfassung: | Aniridia is a congenital disorder caused by variants in the
gene. In this study, we assessed the involvement of
in patients with aniridia from Australasia and Southeast Asia.
Twenty-nine individuals with aniridia from 18 families originating from Australia, New Caledonia, Cambodia, Sri Lanka, and Bhutan were included. The
gene was investigated for sequence variants and analyzed for deletions with multiplex ligation-dependent probe amplification.
We identified 11 sequence variants and six chromosomal deletions, including one in mosaic. Four deleterious sequence variants were novel: p.(Pro81HisfsTer12), p.(Gln274Ter), p.(Ile29Thr), and p.(Met1?). Ocular complications were associated with a progressive loss of visual function as shown by a visual acuity ≤ 1.00 logMAR reported in 65% of eyes. The prevalence of keratopathy was statistically significantly higher in the Australasian cohort (78.6%) compared with the Southeast Asian cohort (9.1%, p=0.002). Variants resulting in protein truncating codons displayed limited genotype-phenotype correlations compared with other variants.
variants and deletions were identified in 94% of patients with aniridia from Australasia and Southeast Asia. This study is the first report of aniridia and variations in
in individuals from Cambodia, Sri Lanka, Bhutan, and New Caledonia, and the largest cohort from Australia. |
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ISSN: | 1090-0535 1090-0535 |