Journal article
Novel RPGR-ORF15 mutations in X-linked retinitis pigmentosa patients
Neuroscience letters, Vol.500(1), pp.16-19
2011
DOI: 10.1016/j.neulet.2011.05.234
PMID: 21683121
Abstract
► To make a genetic diagnosis, we screened causative genes in two unrelated families with XLRP. ► Two novel mutations in RPGR-ORF15 were identified in the families. ► The results may broaden our understanding of XLRP and the spectrum of its pathogenic genotypes.
X-linked retinitis pigmentosa (XLRP) is the most severe type of retinitis pigmentosa (RP), with patients consistently showing early onset and rapid deterioration. Obtaining a genetic diagnosis for a family with XLRP is important for counseling purposes. In this study, we aimed to identify disease-causing mutations in two unrelated XLRP families. Genetic analysis was performed on two unrelated XLRP families. Genomic DNA was extracted from peripheral blood or amniotic fluid samples. The coding regions and intron/exon boundaries of the Retinitis Pigmentosa GTPase Regulator (
RPGR) and
RP2 genes were amplified by PCR and then sequenced directly. A clinically unaffected pregnant female and the four month old fetus were found to have a hemizygous 2 base pair deletion (g.ORF15+484_485delAA) in the exon ORF15 of
RPGR gene. In another XLRP family, a nonsense mutation (g.ORF15+810G>T) was identified. Neither mutation has been reported previously. Both are predicted to cause premature termination of the protein. In conclusion, we identified a micro-deletion through prenatal genetic diagnosis and another novel nonsense mutation in
RPGR-ORF15. Identifying a disease-causing mutation facilitated early diagnosis and genetic counseling for the patients. Discovery of novel mutations also broadens knowledge of XLRP and the spectrum of its pathogenic genotypes.
Details
- Title: Subtitle
- Novel RPGR-ORF15 mutations in X-linked retinitis pigmentosa patients
- Creators
- De-Kang Gan - Eye & ENT Hospital of Fudan UniversityChen-Liang He - Tongde Hospital of Zhejiang ProvinceHai-Rong Shu - Taizhou UniversityMatthew R. Hoffman - University of Wisconsin School of Medicine and Public HealthZi-Bing Jin - Affiliated Eye Hospital of Wenzhou Medical College
- Resource Type
- Journal article
- Publication Details
- Neuroscience letters, Vol.500(1), pp.16-19
- Publisher
- Elsevier Ireland Ltd
- DOI
- 10.1016/j.neulet.2011.05.234
- PMID
- 21683121
- ISSN
- 0304-3940
- eISSN
- 1872-7972
- Language
- English
- Date published
- 2011
- Academic Unit
- Otolaryngology
- Record Identifier
- 9984366376902771
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