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Mutations of CYP1B1 and FOXC1 genes for childhood glaucoma in Japanese individuals.

Japanese journal of ophthalmology - 1 Nov 2024

Fuse Nobuo, Kimura Masae, Shimizu Ai, Koshiba Seizo, Hamanaka Teruhiko, Nakamura Makoto, Ishida Nobuo, Sakai Hiroshi, Ikeda Yoko, Mori Kazuhiko, Endo Atsushi, Nagasaki Masao, Katsuoka Fumiki, Yasuda Jun, Matsubara Yoichi, Nakazawa Toru, Yamamoto Masayuki

Abstract excerpt

PURPOSE: To explore the frequency and positions of genetic mutations in CYP1B1 and FOXC1 in a Japanese population. STUDY DESIGN: Molecular genetic analysis. METHODS: Genomic DNA was extracted from 31 Japanese patients with childhood glaucoma (CG) from 29 families. We examined the CYP1B, FOXC1, and MYOC genes using Sanger sequencing and whole-exome sequencing (WES). RESULTS: For CYP1B1, we identified 9 families...

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Identifiers

PMID: 39158757
DOI: 10.1007/s10384-024-01103-0
PMCID: PMC11607050

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