Journal of Genetic Medicine

Korean Society of Medical Genetics and Genomics (대한의학유전학회)
권호 표지
DOI QR코드

DOI QR Code

A novel mutation in XLRS1 gene in X-linked juvenile retinoschisis

  • Kim, Da Hyun (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) ;
  • Heo, Sun Hee (Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) ;
  • Seo, Go Hun (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) ;
  • Oh, Arum (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) ;
  • Kim, Taeho (Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) ;
  • Kim, Gu-Hwan (Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) ;
  • Yoon, Young Hee (Department of Ophthalmology, Asan Medical Center, University of Ulsan College of Medicine) ;
  • Yoo, Han-Wook (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine) ;
  • Lee, Beom Hee (Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine)
  • Received : 2018.05.17
  • Accepted : 2018.06.08
  • Published : 2018.06.30
Download PDF
⟨ Previous Next ⟩

Abstract

X-linked juvenile retinoschisis (XLRS) is characterized by the progressive loss of visual acuity and vitreous hemorrhage. XLRS is caused by a mutation of retinoschisin 1 (RS1) gene at Xp22.13. In the current report, a 2-year-old Korean patient with XLRS was described. The germline deletion of exon 1 was identified in the RS1 gene. Considering X-linked inheritance pattern, validation of a carrier state of a patient's mother is important for the genetic counseling of other family members and for the future reproductive plan. To confirm the carrier state of his mother, the multiplex ligation-dependent probe amplification analysis was done using peripheral leukocytes and found the heterozygous deletion of exon 1 in his mother.

Keywords

References

  1. Madjarov B, Hilton GF, Brinton DA, Lee SS. A new classification of the retinoschises. Retina 1995;15:282-5. https://doi.org/10.1097/00006982-199515040-00002
  2. Sieving PA, Traboulsi E. Juvenile retinoschisis. In: Traboulsi EI, ed. Genetic diseases of the eye. New York: Oxford University Press, 1998;347-55.
  3. Sikkink SK, Biswas S, Parry NR, Stanga PE, Trump D. X-linked retinoschisis: an update. J Med Genet 2007;44:225-32. https://doi.org/10.1136/jmg.2006.047340
  4. Huang CT, Chen SP, Tsai RK. The gene mutation in a Taiwanese family with X-linked retinoschisis. Kaohsiung J Med Sci 2015;31:309-14. https://doi.org/10.1016/j.kjms.2015.03.001
  5. Li X, Ma X, Tao Y. Clinical features of X linked juvenile retinoschisis in Chinese families associated with novel mutations in the RS1 gene. Mol Vis 2007;13:804-12.
  6. Ma X, Li X, Wang L. Novel XLRS1 gene mutations cause X-linked juvenile retinoschisis in Chinese families. Jpn J Ophthalmol 2008;52:48-51. https://doi.org/10.1007/s10384-007-0488-4
  7. Shinoda K, Ishida S, Oguchi Y, Mashima Y. Clinical characteristics of 14 japanese patients with X-linked juvenile retinoschisis associated with XLRS1 mutation. Ophthalmic Genet 2000;21:171-80. https://doi.org/10.1076/1381-6810(200009)2131-ZFT171
  8. Kim SY, Ko HS, Yu YS, Hwang JM, Lee JJ, Kim SY, et al. Molecular genetic characteristics of X-linked retinoschisis in Koreans. Mol Vis 2009;15:833-43.
  9. Molday RS, Kellner U, Weber BH. X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms. Prog Retin Eye Res 2012;31:195-212. https://doi.org/10.1016/j.preteyeres.2011.12.002
  10. Molday LL, Hicks D, Sauer CG, Weber BH, Molday RS. Expression of X-linked retinoschisis protein RS1 in photoreceptor and bipolar cells. Invest Ophthalmol Vis Sci 2001;42:816-25.
  11. Vazquez-Alfageme C, Reinoso R, Acedo A, Coco RM. X-Linked retinoschisis associated to a novel intragenic microdeletion: case report. BMC Med Genet 2016;17:5. https://doi.org/10.1186/s12881-016-0270-x
  12. D'Souza LJ, Craig C, He H, Lee JY, Antolik C, Li S, et al. X-linked juvenile retinoschisis with novel exonic deletions in the RS1 gene. Invest Ophthalmol Vis Sci 2012;53:4532.
  13. The Retinoschisis Consortium. Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis. Hum Mol Genet 1998;7:1185-92. https://doi.org/10.1093/hmg/7.7.1185