A novel variant of the GPR143 gene causes congenital nystagmus and ocular albinism in a Vietnamese family
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https://doi.org/10.15625/2615-9023/22417Keywords:
Ocular albinism, nystagmus, GPR143 gene, Whole-exome sequencingAbstract
Ocular albinism is an X-linked recessive inherited syndrome resulting from the variants in the G protein-coupled receptor 143 (GPR143) gene. This condition affects patients' vision, characterized by nystagmus, reduced visual acuity, photophobia, retinal hypopigmentation, and foveal hypoplasia, while having minimal effect on skin or hair pigmentation. This study aims to investigate the genetic factor relating to ocular hypopigmentation and nystagmus symptoms in a large family with multiple generations of affected males, which is predicted to be associated with the X-linked inherited model. The first member of this family involved in the genetic examination was a woman with a normal eye phenotype. She had an unaffected daughter and a son diagnosed with congenital nystagmus and retinal hypopigmentation. Her husband did not have any family history of nystagmus or other ocular abnormalities. Whole-exome sequencing revealed that she harbored a heterozygous variant, c.501_503delGCT (p.Leu168del), in the GPR143 gene on the X chromosome, which is known to be related to nystagmus and ocular albinism. The Sanger sequencing showed that this variant presented as heterozygous and hemizygous states in her daughter and her son, respectively. This variant is novel because it is absent in our in-house WES database of 600 Vietnamese and other databases. Our study has extended the understanding of molecular genetics associated with X-linked ocular albinism syndrome in Vietnam, contributing to the rapid, effective diagnosis of patients in Vietnam.
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Bueschbell B., Manga P., & Schiedel A. C., 2022. The Many Faces of G Protein-Coupled Receptor 143, an Atypical Intracellular Receptor. Frontiers in Molecular Biosciences: 9. https://doi.org/ 10.3389/FMOLB.2022.873777
Charles S. J., Moore A. T., Grant J. W., & Yates J. R. W., 1992. Genetic counselling in X-linked ocular albinism: Clinical features of the carrier state. Eye 1992 6:1, 6(1): 75–79. https://doi.org/10.1038/eye.1992.15
Federico J. R. & Krishnamurthy K, 2023. Albinism. StatPearls: p1–p2. https://www.ncbi.nlm.nih.gov/books/NBK519018/
Hegde M., Lewis R. A., & Richards C. S., 2002. Diagnostic DNA testing for X-linked ocular albinism (OA1) with a hierarchical mutation screening protocol. Genetic Testing, 6(1): 7–14. https://doi.org/ 10.1089/109065702760093852
Istrate M., Vlaicu B., Poenaru M., Hasbei-Popa M., Salavat M. C., & Iliescu D. A., 2020. Photoprotection role of melanin in the human retinal pigment epithelium. Imaging techniques for retinal melanin. Romanian Journal of Ophthalmology, 64(2): 100. https://doi.org/10.22336/rjo.2020.20
Levin A. V. & Stroh E., 2011. Albinism for the busy clinician. Journal of American Association for Pediatric Ophthalmology and Strabismus, 15(1): 59–66. https://doi.org/10.1016/J.JAAPOS.2010.10.012
Ma Thi Huyen Thuong, Luong Thi Lan Anh, Hoang Thu Lan, Nguyen Thi Thanh Hoa, Vu Thi Ha, Tran Khoa Van, Nguyen Duy Bac, Trieu Sang Tien, Nguyen Hai Ha, Nong Van Hai and Nguyen Dang Ton, 2021. Novel and very rare causative variants in the COL7A1 gene of Vietnamese patients with recessive dystrophic epidermolysis bullosa revealed by whole-exome sequencing. Molecular Genetics & Genomic Medicine, 9(8): 1748. https://doi.org/10.1002/MGG3.1748
Palmisano I., Bagnato P., Palmigiano A., Innamorati G., Rotondo G., Altimare D., Venturi C., Sviderskaya E. V., Piccirillo R., Coppola M., Marigo V., Incerti B., Ballabio A., Surace E. M., Tacchetti C., Bennett D. C., & Schiaffino M. V., 2008. The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells. Human Molecular Genetics, 17(22): 3487–3501. doi: 10.1093/HMG/DDN241
Poulain P., Palaric J. C., Grosbois B., Milon J., Le Gall E., Goasguen J., & Grall J. Y., 1991. [Autoimmune thrombocytopenic purpura and pregnancy: significance of fetal blood punction]. Journal de Gynecologie, Obstetrique et Biologie de La Reproduction, 20(3): 343–347. https://europepmc.org/ article/MED/1869779
Rosenberg T. & Schwartz M., 1999. X-linked ocular albinism: prevalence and mutations - a national study. European Journal of Human Genetics 1998 6:6, 6(6): 570–577. https://doi.org/10.1038/sj.ejhg.5200226
Schiaffino M. V., Bassi M. T., Galli L., Renieri A., Bruttini M., Nigris F. De, Bergen A. A. B., Charles S. J., Yates J. R. W., Meindl A., Lewis R. A., King R. A., & Ballabio A., 1995. Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism. Human Molecular Genetics, 4(12): 2319–2325. https://doi.org/ 10.1093/HMG/4.12.2319
Thomas M. G., Zippin J., & Brooks B. P., 2023. Oculocutaneous Albinism and Ocular Albinism Overview. GeneReviews®: 1993–2026. https://www.ncbi.nlm.nih.gov/books/ NBK590568/
Ma Thi Huyen Thuong, Luong Thi Lan Anh, Vu Phuong Nhung, Tran Thi Bich Ngoc, Hoang Thu Lan, Doan Kim Phuong, Nguyen Hai Ha, Nong Van Hai and Nguyen Dang Ton, 2022. Genetic analyses of Vietnamese patients with oculocutaneous albinism. Journal of Clinical Laboratory Analysis, 36(9): 24625. https://doi.org/ 10.1002/JCLA.24625
Duong Thu Trang, Nguyen Minh Phu, Do Manh Hung, Vu Phuong Nhung, Nguyen Ngan Ha, Ma Thi Huyen Thuong, Tran Thi Bich Ngoc, Nguyen Xuan Hiep, Nguyen Dang Ton, Nong Van Hai and Nguyen Hai Ha, 2022. Whole exome sequencing revealed novel pathogenic variants in Vietnamese patients with FEVR. Molecular Vision, 28: 480. https://pmc.ncbi.nlm.nih.gov/articles/PMC10115361/
Xu J., Zheng Y., Cheng L., Sun H., Yu X., Gu F., & Song E., 2023. GPR143 mutations in an X-linked infantile nystagmus syndrome cohort in Southeast China. Molecular Vision, 29: 234. https://pmc.ncbi.nlm. nih.gov/articles/PMC10784212/
Yu M., Bouhenni R., Kurup S. K., & He W., 2021. Editorial: Genetic Mutations Associated With Ocular Diseases. Frontiers in Cell and Developmental Biology, 9: 815522. https://doi.org/10.3389/FCELL. 2021.815522/BIBTEX
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Copyright (c) 2026 Nguyen Khanh Linh, Nguyen Huu Hong Thu, Hoang Cuong, Nguyen Hai Ha, Pham Thi Minh Chau
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