Genetic analysis using next-generation sequencing and multiplex ligation probe amplification in Chinese aniridia patients
Variations in PAX6 and its adjacent regions were the predominant causes of aniridia in China. In addition to intragenic point mutations in PAX6, deletion of PAX6 or its adjacent genes is a common cause of congenital aniridia. Furthermore, FOXC1 is an important gene associated with congenital aniridia. The combination of panel-based NGS and MLPA significantly enhanced the detection rate of gene mutations in patients with congenital aniridia.
Authors
- Qingdan Xu (ORCID: https://orcid.org/0000-0001-7910-3122)
- Li Wang (ORCID: https://orcid.org/0000-0001-8357-172X)
- Wentao Wang (ORCID: https://orcid.org/0000-0001-8952-1088)
- Xinghuai Sun (ORCID: https://orcid.org/0000-0002-4440-1389)
- Yuhong Chen (ORCID: https://orcid.org/0000-0002-4396-6353)
Institutions
- Chinese Academy of Medical Sciences & Peking Union Medical College (CN)
- Fudan University (CN)
- Eye & ENT Hospital of Fudan University (CN)
- State Key Laboratory of Medical Neurobiology
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2024-10-24
- DOI
- https://doi.org/10.1186/s13023-024-03388-3
- Citations
- 1
- Primary Topic
- Intraocular Surgery and Lenses
- Type
- article
- Field-Weighted Citation Impact
- 0.54