Exome sequencing identified five novel USH2A variants in Korean patients with retinitis pigmentosa.
Ophthalmic Genet
; 44(2): 163-170, 2023 04.
Article
in En
| MEDLINE
| ID: mdl-36314366
ABSTRACT
BACKGROUND:
Retinitis pigmentosa (RP) is an inherited disorder that causes progressive loss of vision. This study aimed to describe the possible causative variants of the USH2A gene in Korean RP families and their associated phenotypes. MATERIALS ANDMETHODS:
We recruited 94 RP families (220 subjects, including 94 probands and 126 family members) in a Korean cohort, and analyzed USH2A gene variants through whole-exome sequencing. The pathogenicity of the variants was classified according to American College of Medical Genetics and Genomics and Association for Molecular Pathology guidelines.RESULTS:
We found 14 USH2A disease-causing variants, including 5 novel variants. Disease causing variants were identified in 10 probands with RP, accounting for 10.6% (10/94) of the Korean RPs in the cohort. To visually represent the structural changes induced by novel variants, we modeled the three-dimensional structures of the wild-type and mutant proteins.CONCLUSIONS:
This study expands the spectrum of USH2A variants and provides information for future therapeutic strategies for RP.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Retinitis Pigmentosa
Type of study:
Guideline
Limits:
Humans
Country/Region as subject:
Asia
Language:
En
Journal:
Ophthalmic Genet
Journal subject:
GENETICA MEDICA
/
OFTALMOLOGIA
Year:
2023
Document type:
Article