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. 2021 Oct 5;21(1):353.
doi: 10.1186/s12886-021-02120-0.

A novel 4.25 kb heterozygous deletion in PAX6 in a Chinese Han family with congenital aniridia combined with cataract and nystagmus

Tianwei Qian #  1   2   3   4   5   6   7 , Chong Chen #  1   2   3   4   5 , Caihua Li  8 , Qiaoyun Gong  1   2   3   4   5 , Kun Liu  1   2   3   4   5 , Gao Wang  6 , Isabelle Schrauwen  9 , Xun Xu  10   11   12   13   14
Affiliations

A novel 4.25 kb heterozygous deletion in PAX6 in a Chinese Han family with congenital aniridia combined with cataract and nystagmus

Tianwei Qian et al. BMC Ophthalmol. .

Abstract

Background: The aim of this study is to identify the genetic defect in a Chinese family with congenital aniridia combined with cataract and nystagmus.

Methods: Complete ophthalmic examinations, including slit-lamp biomicroscopy, dilated indirect ophthalmoscopy, anterior segment photography, and anterior segment optical coherence tomography (OCT) were performed. Blood samples were collected from all family members and genomic DNA was extracted. Genome sequencing was performed in all family members and Sanger sequencing was used to verify variant breakpoints.

Results: All the thirteen members in this Chinese family, including seven patients and six normal people, were recruited in this study. The ophthalmic examination of affected patients in this family was consistent with congenital aniridia combined with cataract and nystagmus. A novel heterozygous deletion (NC_000011.10:g.31802307_31806556del) containing the 5' region of PAX6 gene was detected that segregated with the disease.

Conclusion: We detected a novel deletion in PAX6 responsible for congenital aniridia in the affected individuals of this Chinese family. The novel 4.25 kb deletion in PAX6 gene of our study would further broaden the genetic defects of PAX6 associated with congenital aniridia.

Keywords: Congenital aniridia; Copy number variant; Deletion; PAX6.

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Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
Pedigree of the four-generation family with congenital aniridia. Solid symbols indicate affected individuals, and open symbols indicate unaffected individuals. Arrow indicates the proband of this family
Fig. 2
Fig. 2
Representative photos of the patients in the family with aniridia. A, C Anterior segment photography of the proband (II:4) displayed complete aniridia and aphasias in both eyes and corneal leukoplakia in the right eye. B, D Anterior segment OCT of the proband (II:4) also exhibited total iris absence in both eyes. E, G Anterior segment photography of the patient III:5 displayed complete aniridia in both eyes, intraocular lens in her right eye and cataract in her left eye. F, H Anterior segment OCT of the patient III:5 also exhibited total absence of the iris in both eyes
Fig. 3
Fig. 3
Comparison of high throughput sequencing between affected (and unaffected members by Integrative Genomics Viewer
Fig. 4
Fig. 4
Quantities of exons 3 and 4 by RT-PCR
Fig. 5
Fig. 5
Sequence chromatograms showing the PAX6 deletion mutation identified in this study. The numbers (from 1 to 12) represent exons; black boxes represent coding region and grey boxes represent UTR; Solid lines exons represent introns; intermittent lines represent introns with unequally proportional length
See this image and copyright information in PMC

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