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Cai S, Zhang D, Jiao X, et al. Novel compound heterozygous mutations in . Mol Med Rep. 2021;24(5)doi: 10.3892/mmr.2021.12443.
Cai, S., Zhang, D., Jiao, X., Wang, T., Fan, M., Wang, Y., Hejtmancik, J. F., & Liu, X. (2021). Novel compound heterozygous mutations in . Molecular medicine reports, 24(5), . https://doi.org/10.3892/mmr.2021.12443
Cai, Suping, et al. "Novel compound heterozygous mutations in ." Molecular medicine reports vol. 24,5 (2021). doi: https://doi.org/10.3892/mmr.2021.12443
Cai S, Zhang D, Jiao X, Wang T, Fan M, Wang Y, Hejtmancik JF, Liu X. Novel compound heterozygous mutations in . Mol Med Rep. 2021 Nov;24(5). doi: 10.3892/mmr.2021.12443. Epub 2021 Sep 16. PMID: 34528698.
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Mol Med Rep. 2021 Nov;24(5). doi: 10.3892/mmr.2021.12443. Epub 2021 Sep 16.

Novel compound heterozygous mutations in .

Molecular medicine reports

Suping Cai, Daren Zhang, Xiaodong Jiao, Tingting Wang, Mengjie Fan, Yun Wang, James Fielding Hejtmancik, Xuyang Liu

Affiliations

  1. Shenzhen Key Laboratory of Ophthalmology, Shenzhen Eye Hospital, Shenzhen University School of Medicine, Shenzhen, Guangdong 518000, P.R. China.
  2. Xiamen Eye Center, Xiamen University, Xiamen, Fujian 361000, P.R. China.
  3. Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20852, USA.
  4. Department of Ophthalmology and Optometry, School of Medical Technology and Engineering, Fujian Medical University, Fuzhou, Fujian 350004, P.R. China.

PMID: 34528698 DOI: 10.3892/mmr.2021.12443

Abstract

Developmental glaucoma, a subset of glaucoma, is associated with trabeculodysgenesis and/or anterior segment dysgenesis. It is one of the major causes of childhood blindness. Understanding its genetic background is important to diagnose, and identify potential therapeutic targets, of this disease. The present study aimed to detect the molecular origin of developmental glaucoma in a Chinese pedigree and its association with glaucomatous phenotypes. A three‑generation pedigree with developmental glaucoma was analyzed in the current study; a thorough ocular examination was performed on the proband and other individuals in the family. Genomic DNA was extracted from the peripheral blood of each individual, and possible disease‑causing genes were screened for mutations using a candidate gene panel. Exons and adjacent regions of the target genes were captured and enriched by probe hybridization. The enriched genes were sequenced on an Illumina high‑throughput sequencer. Variations were verified in other family members using Sanger sequencing. Disease causing mutations were analyzed by comparing the sequences and the structures of wild‑type and mutated cytochrome P450 family 1 subfamily B member 1 (

Keywords: compound heterozygous mutations; cytochrome P450 family 1 subfamily B member 1; developmental glaucoma

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