A novel mutation in XLRS1 gene in X-linked juvenile retinoschisis
Journal of Genetic Medicine
;
: 13-16, 2018.
Article
in English
| WPRIM
| ID: wpr-715430
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Vitreous Hemorrhage
/
Carrier State
/
Visual Acuity
/
Exons
/
Retinoschisis
/
Genes, X-Linked
/
Multiplex Polymerase Chain Reaction
/
Genetic Counseling
/
Leukocytes
/
Mothers
Type of study:
Prognostic study
Limits:
Child, preschool
/
Humans
Language:
English
Journal:
Journal of Genetic Medicine
Year:
2018
Type:
Article
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