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. 2022 Feb 11;22(1):69.
doi: 10.1186/s12886-022-02301-5.

Novel variants in the RDH5 Gene in a Chinese Han family with fundus albipunctatus

Tianwei Qian #  1   2   3   4   5   6 , Qiaoyun Gong #  1   2   3   4   5 , Hangqi Shen  1   2   3   4   5 , Caihua Li  7 , Gao Wang  6 , Xun Xu  1   2   3   4   5 , Isabelle Schrauwen  8 , Weijun Wang  9   10   11   12   13
Affiliations

Novel variants in the RDH5 Gene in a Chinese Han family with fundus albipunctatus

Tianwei Qian et al. BMC Ophthalmol. .

Abstract

Background: The aim of this study is to identify the genetic defects in a Chinese family with fundus albipunctatus.

Methods: Complete ophthalmic examinations, including slit-lamp biomicroscopy, dilated indirect ophthalmoscopy, fundus photography, autofluorescence, swept source optical coherence tomography (SS-OCT) and full-field electroretinography (ffERG) were performed. Genomic DNA was extracted from blood samples and whole genome sequencing was performed. Variants were validated with Sanger sequencing.

Results: Six members in this Chinese family, including three affected individuals and three controls, were recruited in this study. The ophthalmic examination of three recruited patients was consistent with fundus albipunctatus. Three variants, a novel frameshift deletion c.39delA [p.(Val14CysfsX47] and a haplotype of two rare missense variants, c.683G > A [p.(Arg228Gln)] along with c.710A > G [p.(Tyr237Cys], within the retinal dehydrogenase 5 (RDH5) gene were found to segregate with fundus albipunctatus in this family in an autosomal recessive matter.

Conclusion: We identified novel compound heterozygous variants in RDH5 responsible for fundus albipunctatus in a large Chinese family. The results of our study further broaden the genetic defects of RDH5 associated with fundus albipunctatus.

Keywords: Frameshift deletion; Fundus albipunctatus; Missense variants; RDH5 gene.

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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 family with Fundus Albipunctatus. Solid symbols indicate affected individuals, and open symbols indicate unaffected individuals. Arrow indicates the proband of this family
Fig. 2
Fig. 2
Representative ophthalmic examination results of the II:8 and II:5 patients with Fundus Albipunctatus. (A1-A4) Fundus photography. (B1-B4) Fundus autofluorescence. (C1-C4) Optical coherence tomography
Fig. 3
Fig. 3
The comparison of high throughput sequencing between one affected (II:2) and one unaffected (II:11) member by Integrative Genomics Viewer (IGV)
Fig. 4
Fig. 4
Partial Sanger traces of the RDH5 gene. The arrow indicates the variant position. (A) A novel frameshift deletion c.39delA;p.(Val14CysfsX47); (B and C) Missense variants c.683G > A;p.(Arg228Gln) and c.710A > G; p.(Tyr237Cys) which are present on the same haplotype
See this image and copyright information in PMC

References

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