July 2019
Volume 60, Issue 9
Open Access
ARVO Annual Meeting Abstract  |   July 2019
Identification of a novel mutation in the IMPDH1 gene in a Chinese family with Autosomal Dominant Retinitis Pigmentosa
Author Affiliations & Notes
  • Youjin Wang
    China Medical University, Shenyang, China
  • Fei Liu
    China Medical University, Shenyang, China
  • Xinxin Zhang
    China Medical University, Shenyang, China
  • Yupu Liu
    China Medical University, Shenyang, China
  • Tingyu Yan
    China Medical University, Shenyang, China
  • qian liu
    China Medical University, Shenyang, China
  • Yanyan He
    China Medical University, Shenyang, China
  • Changyang Liu
    China Medical University, Shenyang, China
  • shizhen lei
    China Medical University, Shenyang, China
  • Xiaochen Wang
    China Medical University, Shenyang, China
  • Hehe Liu
    China Medical University, Shenyang, China
  • Jun Kong
    China Medical University, Shenyang, China
  • Footnotes
    Commercial Relationships   Youjin Wang, None; Fei Liu, None; Xinxin Zhang, None; Yupu Liu, None; Tingyu Yan, None; qian liu, None; Yanyan He, None; Changyang Liu, None; shizhen lei, None; Xiaochen Wang, None; Hehe Liu, None; Jun Kong, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science July 2019, Vol.60, 4480. doi:
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    • Get Citation

      Youjin Wang, Fei Liu, Xinxin Zhang, Yupu Liu, Tingyu Yan, qian liu, Yanyan He, Changyang Liu, shizhen lei, Xiaochen Wang, Hehe Liu, Jun Kong; Identification of a novel mutation in the IMPDH1 gene in a Chinese family with Autosomal Dominant Retinitis Pigmentosa. Invest. Ophthalmol. Vis. Sci. 2019;60(9):4480.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose : To screen causative gene mutations in patients with RP by using Next-generation sequencing technique and to explore the function of the causative genes.

Methods : RP proband and all available family members underwent ophthalmic examination and blood samples collection.Next-generation sequencing technology was used to screen mutations.The pathogenicity of suspected mutations was analyzed using bioinformatics softwares including SIFT, PolyPhen-2 and Mutationtaster and so on to select deleterious variants. The candidate mutations were tested by Sanger sequencing.PCR-RFLP was used to identify whether the novel mutations are SNPs. Homology modeling method was used to predict the structure of the variants expressed protein.qRT-PCR was applied to evaluate the levels of the mRNA in mutation gene.

Results : We found a novel mutation c.1497G>A(p.M499I)of the known causative gene IMPDH1 which may lead to RP changes in the Chinese family. Homology modeling method showed that the variant slightly altered the structure of the protein. The IMPDH1 mRNA level in mutation type is 1.61 times higher than the level in normal type(t=-12.656,P<0.05).

Conclusions : The novel heterozygous variants c.1497G>A in IMPDH1 may be the causal mutation for RP, which has never been reported previously and needs further functional studies to prove.

This abstract was presented at the 2019 ARVO Annual Meeting, held in Vancouver, Canada, April 28 - May 2, 2019.

 

(A,B)Fundus photographs of the proband in the posterior pole showed mild degenerative changes of the retinal pigment epithelium (RPE) with an irregular visualization of the peri-vascular arch choroidal vasculature. (C,D) Fundus photographs of the proband in peripheral retina showed bone spicule-shaped pigment deposits.

(A,B)Fundus photographs of the proband in the posterior pole showed mild degenerative changes of the retinal pigment epithelium (RPE) with an irregular visualization of the peri-vascular arch choroidal vasculature. (C,D) Fundus photographs of the proband in peripheral retina showed bone spicule-shaped pigment deposits.

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