• Fulltext

       

        Click here to view fulltext PDF


      Permanent link:
      https://www.ias.ac.in/article/fulltext/jgen/097/05/1479-1484

    • Keywords

       

      ocular albinism; GPR143 gene; whole-exome sequencing; phenotype; nystagmus.

    • Abstract

       

      Ocular albinism type 1 (OA1) is an X-linked inherited disease characterized by impaired visual acuity, congenital nystagmus, foveal hypoplasia, hypopigmentation of iris and fundus. It is caused by mutations in the G protein-coupled receptor143 (GPR143) gene. The genetic characteristics of OA1 have not been well defined in Asians. In this study, six members from three consecutive generations of a Korean family with OA1 were enrolled. We performed whole-exome sequencing followed by validation and segregation analysis. Two affected patients underwent detailed ophthalmic examinations and eye movement recordings. Of the two affected males, the proband had all classical phenotypes of OA1, but the other showed isolated foveal hypoplasia without nystagmus. We identified a hemizygous missense (c.623C > A, p.Ala208Glu) mutation of GPR143 in affected males. This mutation was also present as heterozygous in two obligate female carriers, and was not found in unaffected members. Our data expands thespectrum of phenotypes and genotype in GPR143 in Asians, and highlights the phenotypic heterogeneity in OA1.

    • Author Affiliations

       

      JAE-HO JUNG1 EUN HYE OH2 JIN-HONG SHIN2 HYANG-SOOK KIM2 SEO YOUNG CHOI3 KWANG-DONG CHOI3 CHANG WOOK LEE4 JAE-HWAN CHOI2

      1. Department of Ophthalmology, Seoul National University Hospital, Seoul, South Korea
      2. Department of Neurology, Pusan National University School of Medicine, Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Yangsan, South Korea
      3. Department of Neurology, Pusan National University Hospital, Pusan National University School of Medicine and Biomedical Research Institute, Busan, South Korea
      4. Department of Biological Sciences, School of Life Sciences, Ulsan National Institute of Sciences and Technology, Ulsan, South Korea
    • Dates

       
  • Journal of Genetics | News

© 2017-2019 Indian Academy of Sciences, Bengaluru.