Identification of a novel GPR143 mutation in a large Chinese family with isolated foveal hypoplasia.

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  • Additional Information
    • Source:
      Publisher: BioMed Central Country of Publication: England NLM ID: 100967802 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2415 (Electronic) Linking ISSN: 14712415 NLM ISO Abbreviation: BMC Ophthalmol Subsets: MEDLINE
    • Publication Information:
      Original Publication: London : BioMed Central, [2001-
    • Subject Terms:
      Eye Proteins*/genetics ; Membrane Glycoproteins*/genetics; China ; Humans ; Mutation ; Pedigree
    • Abstract:
      Background: Pathogenic variants of G-protein coupled receptor 143 (GPR143) gene often leads to ocular albinism type I (OA1) characterized by nystagmus, iris and fundus hypopigmentation, and foveal hypoplasia. In this study, we identified a novel hemizygous nonsense mutation in GPR143 that caused an atypical manifestation of OA1.
      Case Presentation: We reported a large Chinese family in which all affected individuals are afflicted with poor visual acuity and foveal hypoplasia without signs of nystagmus. Fundus examination of patients showed an absent foveal reflex and mild hypopigmentation. The fourth grade of foveal hypoplasia and the reduced area of blocked fluorescence at foveal region was detected in OCT. OCTA imaging showed the absence of foveal avascular zone. In addition, the amplitude of multifocal ERG was reduced in the central ring. Gene sequencing results revealed a novel hemizygous mutation (c.939G > A) in GPR143 gene, which triggered p.W313X. However, no iris depigmentation and nystagmus were observed among both patients and carriers.
      Conclusions: In this study, we reported a novel nonsense mutation of GPR143 in a large family with poor visual acuity and isolated foveal hypoplasia without nystagmus, which further expanded the genetic mutation spectrum of GPR143.
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    • Grant Information:
      81870694 National Natural Science Foundation of China; 61671242 National Natural Science Foundation of China
    • Contributed Indexing:
      Keywords: Case report; GPR143 mutation; Isolated foveal hypoplasia; OA1
    • Accession Number:
      0 (Eye Proteins)
      0 (GPR143 protein, human)
      0 (Membrane Glycoproteins)
    • Publication Date:
      Date Created: 20210331 Date Completed: 20210519 Latest Revision: 20220531
    • Publication Date:
      20221213
    • Accession Number:
      PMC8011130
    • Accession Number:
      10.1186/s12886-021-01905-7
    • Accession Number:
      33785018