June 2017
Volume 58, Issue 8
Open Access
ARVO Annual Meeting Abstract  |   June 2017
Identification of a novel SDCCAG8 gene variant in a family with retinitis pigmentosa and kidney failure
Author Affiliations & Notes
  • Benjamin Bakall
    University of Arizona College of Medicine Phoenix, Phoenix, Arizona, United States
    Associated Retina Consultants, Phoenix, Arizona, United States
  • Pooja Biswas
    Shiley Eye Institute, University of California San Diego, La Jolla, California, United States
  • Hiroko Matsui
    Institute for Genomic Medicine, University of California San Diego, San Diego, California, United States
  • John Suk
    Institute for Genomic Medicine, University of California San Diego, San Diego, California, United States
  • Amalio Telenti
    Human Longevity Inc, San Diego, California, United States
  • Kelly A Frazer
    Institute for Genomic Medicine, University of California San Diego, San Diego, California, United States
  • Radha Ayyagari
    Shiley Eye Institute, University of California San Diego, La Jolla, California, United States
  • Footnotes
    Commercial Relationships   Benjamin Bakall, None; Pooja Biswas, None; Hiroko Matsui, None; John Suk, None; Amalio Telenti, Human Longevity Inc. (E); Kelly Frazer, None; Radha Ayyagari, Spouse - Pfizer (E)
  • Footnotes
    Support  Foundation Fighting Blindness, Research to Prevent Blindness, P30EY022589, NIHEY13198, NIH-EY21237
Investigative Ophthalmology & Visual Science June 2017, Vol.58, 2772. doi:
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      Benjamin Bakall, Pooja Biswas, Hiroko Matsui, John Suk, Amalio Telenti, Kelly A Frazer, Radha Ayyagari; Identification of a novel SDCCAG8 gene variant in a family with retinitis pigmentosa and kidney failure. Invest. Ophthalmol. Vis. Sci. 2017;58(8):2772.

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

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Abstract

Purpose : To describe the clinical phenotype and molecular analysis of a proband with autosomal recessive retinitis pigmentosa and kidney failure.

Methods : The clinical phenotype was characterized in a proband from a consanguineous family with four of nine siblings affected by retinal dystrophy and kidney failure. Visual function was assessed with visual acuity, semi-automated kinetic visual field, full field electroretinogram (ERG), fundus photography and ocular coherence tomography (OCT). Whole-genome sequencing (WGS) was performed on the proband using the Illumina protocols and HiSeqX10. The reads were aligned to human genome hg19 with decoy sequences using BWA-MEM with default parameters. Variant calling was performed using GATK following the best-practice pipeline guidance. The called variants were annotated based on frequency, ExAC, SnpEff, PolyPhen2, and CADD score. Mutational analysis of the mother and proband was performed by Sanger sequencing.

Results : The male proband experienced nyctalopia in the third decade and was diagnosed with retinitis pigmentosa in the fifth decade. The semi-automated kinetic visual field showed severe constriction with an inferior preserved visual island and the ERG was consistent with advanced retinal dystrophy in each eye. OCT exhibited outer retinal atrophy with foveal sparing in both eyes. Three other siblings experienced similar retinal dystrophy. All four affected family members had kidney failure. The WGS revealed a rare novel homozygous nonsense variant c.481C>T, p.Gln161* in the Serologically Defined Colon Cancer Antigen 8 (SDCCAG8 - NM_006642.3) gene and segregation analysis was confirmed with a maternal sample. TheSDCCAG8 gene is associated with nephronophtisis-related ciliopathies (OMIM #613524)

Conclusions : WGS analysis identified a novel homozygous nonsense variant p.Gln161* in the SDCCAG8 gene in a male proband affected by retinal-renal ciliopathy.

This is an abstract that was submitted for the 2017 ARVO Annual Meeting, held in Baltimore, MD, May 7-11, 2017.

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