A novel mutation in XLRS1 gene in X-linked juvenile retinoschisis.
- Author:
Da Hyun KIM
1
;
Sun Hee HEO
;
Go Hun SEO
;
Arum OH
;
Taeho KIM
;
Gu Hwan KIM
;
Young Hee YOON
;
Han Wook YOO
;
Beom Hee LEE
Author Information
- Publication Type:Case Report
- Keywords: Retinoschisis; Mutation; Multiplex ligation-dependent probe amplification
- MeSH: Carrier State; Child, Preschool; Exons; Genes, X-Linked; Genetic Counseling; Humans; Leukocytes; Mothers; Multiplex Polymerase Chain Reaction; Retinoschisis*; Visual Acuity; Vitreous Hemorrhage
- From:Journal of Genetic Medicine 2018;15(1):13-16
- CountryRepublic of Korea
- Language:English
- 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.
