Identification of RPGR ORF15 mutation for X-linked retinitis pigmentosa in a large Chinese family and in vitro correction with prime editor.
Gene Ther
; 30(1-2): 160-166, 2023 02.
Article
in En
| MEDLINE
| ID: mdl-35794468
ABSTRACT
X-linked retinitis pigmentosa (XLRP) is the most severe form of Retinitis Pigmentosa (RP) and one of the leading causes of blindness in the world. Currently, there is no effective treatment for RP. In the present study, we recruited a XLRP family and identified a 4 bp deletion mutation (c. 2234_2237del) in RPGR ORF15 with Sanger sequencing, which was located in the exact same region as the missing XES (X chromosome exome sequencing) coverage. Then, we generated cell lines harboring the identified mutation and corrected it via enhanced prime editing system (ePE). Collectively, Sanger sequencing identified a pathogenic mutation in RPGR ORF15 for XLRP which was corrected with ePE. This study provides a valuable insight for genetic counseling of the afflicted family members and prenatal diagnosis, also paves a way for applying prime editing based gene therapy in those patients.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Retinitis Pigmentosa
/
Genetic Diseases, X-Linked
/
Eye Proteins
Type of study:
Diagnostic_studies
Limits:
Humans
Language:
En
Journal:
Gene Ther
Journal subject:
GENETICA MEDICA
/
TERAPEUTICA
Year:
2023
Document type:
Article
Affiliation country:
China