A novel compound heterozygous PCDH15 variants is associated with arRP in a Chinese pedigree
This is the first study to identify novel compound heterozygous variants c.4368 - 2147_4368-2131del and c.2505del(p.T836Lfs*6) in the PCDH15 gene which might be disease-causing variants, and extending the variant spectra. All above findings may be contribute to genetic counseling, molecular diagnosis and clinical management of arRP disease.
Authors
- Meiyu Shi (ORCID: https://orcid.org/0000-0002-2107-5189)
- Li Zhu
- Yajuan Zhang (ORCID: https://orcid.org/0000-0003-0283-9072)
- Hongchao Zhao (ORCID: https://orcid.org/0000-0003-0670-8491)
- Wenrui Zhao
- Wei-yi Zheng
- Hong Yang
Institutions
- Fudan University (CN)
- Kunming Medical University (CN)
- Eye & ENT Hospital of Fudan University (CN)
- Sixth Affiliated Hospital of Kunming Medical University (CN)
- China Medical University (CN)
Publication Details
- Journal
- BMC Ophthalmology
- Published
- 2024-08-26
- DOI
- https://doi.org/10.1186/s12886-024-03640-1
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Natural Science Foundation of Yunnan Province