[HTML][HTML] Mutation spectrum of PAX6 and clinical findings in 95 Chinese patients with aniridia
B You, X Zhang, K Xu, Y Xie, H Ye, Y Li - Molecular vision, 2020 - ncbi.nlm.nih.gov
B You, X Zhang, K Xu, Y Xie, H Ye, Y Li
Molecular vision, 2020•ncbi.nlm.nih.govPurpose Aniridia is a rare congenital panocular disease caused by mutations in PAX6. The
purposes of this study were to clarify the mutation features of PAX6 in a cohort of Chinese
patients with aniridia and to describe their clinical characteristics. Methods We recruited 95
patients from 65 unrelated families clinically diagnosed with aniridia. All patients underwent
ophthalmic examinations. Sanger sequencing and multiplex ligation probe amplification of
PAX6 were performed to detect intragenic variants and copy number variations (CNVs) …
purposes of this study were to clarify the mutation features of PAX6 in a cohort of Chinese
patients with aniridia and to describe their clinical characteristics. Methods We recruited 95
patients from 65 unrelated families clinically diagnosed with aniridia. All patients underwent
ophthalmic examinations. Sanger sequencing and multiplex ligation probe amplification of
PAX6 were performed to detect intragenic variants and copy number variations (CNVs) …
Abstract
Purpose
Aniridia is a rare congenital panocular disease caused by mutations in PAX6. The purposes of this study were to clarify the mutation features of PAX6 in a cohort of Chinese patients with aniridia and to describe their clinical characteristics.
Methods
We recruited 95 patients from 65 unrelated families clinically diagnosed with aniridia. All patients underwent ophthalmic examinations. Sanger sequencing and multiplex ligation probe amplification of PAX6 were performed to detect intragenic variants and copy number variations (CNVs).
Results
We identified 58 disease-causing mutations in PAX6 in 63 families; the detection rate was 96.9%. The 58 mutations included frameshift indels (27.6%), splice site changes (25.9%), nonsense mutations (20.7%), CNVs (19.0%), missense mutations (3.4%), run-on mutations (1.7%), and a synonymous mutation (1.7%). Clinical examinations revealed that 71 patients had complete or almost complete iris loss, 16 patients showed partial iris loss, and six patients had a full iris but with an abnormal structure.
Conclusions
The results confirmed that mutations in PAX6 are the predominant cause of aniridia, and the majority are loss-of-function mutations that usually result in classical aniridia. In contrast, missense mutations, run-on mutations, and small numbers of splicing mutations mostly lead to atypical aniridia and an intrafamilial phenotypic variability of iris hypoplasia.
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