Mutations of CYP1B1 and FOXC1 genes for childhood glaucoma in Japanese individuals
Our analyses of 29 CG families revealed 9 families with point mutations in the CYP1B1 gene, and four of those patients appeared to be heterozygotes, suggesting the presence of complex pathogenic mechanisms. FOXC1 appears to be another major causal gene of CG, indicating that panel sequencing of CYP1B1 and FOXC1 will be useful for diagnosis of CG in Japanese individuals.
Authors
- Fumiki Katsuoka (ORCID: https://orcid.org/0000-0003-0939-7887)
- Nobuo Fuse (ORCID: https://orcid.org/0000-0003-0237-4746)
- Masao Nagasaki
- S. Koshiba (ORCID: https://orcid.org/0000-0003-2001-1949)
- Hiroshi Sakai (ORCID: https://orcid.org/0000-0002-3185-0804)
- Jun Yasuda (ORCID: https://orcid.org/0000-0002-3887-6871)
- Makoto Nakamura (ORCID: https://orcid.org/0000-0002-6464-4302)
- Atsushi Endo (ORCID: https://orcid.org/0000-0002-6591-1599)
- Teruhiko Hamanaka
- Masae Kimura
- Ai Shimizu (ORCID: https://orcid.org/0000-0001-9258-5250)
- Yoichi Matsubara (ORCID: https://orcid.org/0000-0001-5990-8214)
- Masayuki Yamamoto (ORCID: https://orcid.org/0000-0002-9073-9436)
- Yoko Ikeda (ORCID: https://orcid.org/0000-0003-3131-9156)
- Kazuhiko Mori (ORCID: https://orcid.org/0000-0002-5505-4917)
- Toru Nakazawa
- Nobuo Ishida
Institutions
- Tohoku University (JP)
- Kyoto University (JP)
- Kyoto Prefectural University of Medicine (JP)
- Japanese Red Cross Medical Center (JP)
- National Center For Child Health and Development (JP)
- Tohoku Medical Megabank Organization (JP)
- Kobe University (JP)
Publication Details
- Journal
- Japanese Journal of Ophthalmology
- Published
- 2024-08-19
- DOI
- https://doi.org/10.1007/s10384-024-01103-0
- Citations
- 3
- Primary Topic
- Glaucoma and retinal disorders
- Type
- article
- Field-Weighted Citation Impact
- 1.62
Funders
- Japan Society for the Promotion of Science