July 2019
Volume 60, Issue 9
Open Access
ARVO Annual Meeting Abstract  |   July 2019
Biallelic Mutations in a Novel Gene FAM*** are Associated with Inherited Retinal Dystrophies
Author Affiliations & Notes
  • Zhen Yii
    Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China
  • Qingjiong Zhang
    Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China
  • Footnotes
    Commercial Relationships   Zhen Yii, None; Qingjiong Zhang, None
  • Footnotes
    Support  grants from the Key Projects of Guangzhou (201607020013), the Science and Technology Planning Projects of Guangdong (2017B030314025), and the Fundamental Research Funds of the State Key Laboratory of Ophthalmology
Investigative Ophthalmology & Visual Science July 2019, Vol.60, 380. doi:
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    • Get Citation

      Zhen Yii, Qingjiong Zhang; Biallelic Mutations in a Novel Gene FAM*** are Associated with Inherited Retinal Dystrophies. Invest. Ophthalmol. Vis. Sci. 2019;60(9):380.

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

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Purpose : Inherited retinal dystrophies (IRDs) are the major causes of irreversible blindness in children, adolescent, and working-age people. In this study, the objective was to identify pathogenic variants in two unsolved Chinese families with IRDs.

Methods : To identify the genetic defect, whole-exome sequencing (WES) and clinical analysis was performed in both probands with IRDs, as well as in 1974 in-house controls with other hereditary eye diseases. The expression profiles, as well as the phenotype analysis of knockout mice model, were performed to investigate the function of FAM*** in photoreceptors.

Results : By analysing WES data based on allele frequencies of in-house controls, population allele frequencies, and in silico prediction tools, two rare compound heterozygeous mutations in FAM*** were identified in two unrelated families. Quantitative real-time PCR revealed the expression of FAM*** in human retina and its progressively increased expression during postnatal retinal development in mice. Immunohistochemistry of FAM*** in the human retinal sections revealed enriched expression in the outer segments of rod photoreceptors. There was no significant retinal degeneration in FAM*** gene knockout mice in 15 weeks.

Conclusions : Our study implicates that biallelic mutations in FAM*** are associated with the occurrence of IRDs. Moreover, the specific expression in photoreceptors indicates that FAM*** may play an important role in the maintenance of photoreceptor function. The lack of retinal degeneration phenotypes in FAM*** gene knockout mice may owe to their relatively younger age.

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


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