Mutation spectrum of CYP1B1 and MYOC genes in Korean patients with primary congenital glaucoma

Hee Jung Kim, Wool Suh, Sung Chul Park, Chan Yun Kim, Ki Ho Park, Michael S. Kook, Yong Yeon Kim, Chang Sik Kim, Chan Kee Park, Chang Seok Ki, Changwon Kee

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Abstract

Purpose: To elucidate the incidence of cytochrome P450 1B1 (CYP1B1) and myocillin (MYOC) mutations in Korean patients with primary congenital glaucoma (PCG). Methods: Genomic DNA was collected from peripheral blood of 85 unrelated Korean patients who were diagnosed as having PCG by standard ophthalmological examinations and screened for mutations in the CYP1B1 and MYOC genes by using bi-directional sequencing. Results: Among 85 patients with PCG, 22 patients (22/85; 25.9%) had either one (n=11) or two (n=11) mutant alleles of the CYP1B1 gene. Among 11 different CYP1B1 mutations identified, a frameshift mutation (c.970_971dupAT; p.T325SfsX104) was the most frequent mutant allele (6/33; 18.2%) while p.G329S and p.V419Gfs11X were novel. In the MYOC gene, two variants of unknown significance (p.L228S and p.E240G) were identified in two PCG patients (2/85; 2.4%), respectively. No patient had mutations in both genes. Conclusions: Although CYP1B1 mutations are major causes of PCG in Korea, ~70% of PCG patients have neither CYP1B1 nor MYOC mutations suggesting a high degree of genetic heterogeneity. Furthermore, the fact that 11 out of 22 patients had only one mutant allele in the CYP1B1 gene necessitates further investigation for other genetic backgrounds underlying PCG.

Original languageEnglish
Pages (from-to)2093-2101
Number of pages9
JournalMolecular Vision
Volume17
Publication statusPublished - 2011 Sep 26

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Glaucoma
Cytochrome P-450 Enzyme System
Mutation
Genes
Alleles
Frameshift Mutation
Genetic Heterogeneity
Korea
DNA
Incidence

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Kim, H. J., Suh, W., Park, S. C., Kim, C. Y., Park, K. H., Kook, M. S., ... Kee, C. (2011). Mutation spectrum of CYP1B1 and MYOC genes in Korean patients with primary congenital glaucoma. Molecular Vision, 17, 2093-2101.

Mutation spectrum of CYP1B1 and MYOC genes in Korean patients with primary congenital glaucoma. / Kim, Hee Jung; Suh, Wool; Park, Sung Chul; Kim, Chan Yun; Park, Ki Ho; Kook, Michael S.; Kim, Yong Yeon; Kim, Chang Sik; Park, Chan Kee; Ki, Chang Seok; Kee, Changwon.

In: Molecular Vision, Vol. 17, 26.09.2011, p. 2093-2101.

Research output: Contribution to journalArticle

Kim, HJ, Suh, W, Park, SC, Kim, CY, Park, KH, Kook, MS, Kim, YY, Kim, CS, Park, CK, Ki, CS & Kee, C 2011, 'Mutation spectrum of CYP1B1 and MYOC genes in Korean patients with primary congenital glaucoma', Molecular Vision, vol. 17, pp. 2093-2101.
Kim HJ, Suh W, Park SC, Kim CY, Park KH, Kook MS et al. Mutation spectrum of CYP1B1 and MYOC genes in Korean patients with primary congenital glaucoma. Molecular Vision. 2011 Sep 26;17:2093-2101.
Kim, Hee Jung ; Suh, Wool ; Park, Sung Chul ; Kim, Chan Yun ; Park, Ki Ho ; Kook, Michael S. ; Kim, Yong Yeon ; Kim, Chang Sik ; Park, Chan Kee ; Ki, Chang Seok ; Kee, Changwon. / Mutation spectrum of CYP1B1 and MYOC genes in Korean patients with primary congenital glaucoma. In: Molecular Vision. 2011 ; Vol. 17. pp. 2093-2101.
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AU - Park, Ki Ho

AU - Kook, Michael S.

AU - Kim, Yong Yeon

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AU - Park, Chan Kee

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AU - Kee, Changwon

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N2 - Purpose: To elucidate the incidence of cytochrome P450 1B1 (CYP1B1) and myocillin (MYOC) mutations in Korean patients with primary congenital glaucoma (PCG). Methods: Genomic DNA was collected from peripheral blood of 85 unrelated Korean patients who were diagnosed as having PCG by standard ophthalmological examinations and screened for mutations in the CYP1B1 and MYOC genes by using bi-directional sequencing. Results: Among 85 patients with PCG, 22 patients (22/85; 25.9%) had either one (n=11) or two (n=11) mutant alleles of the CYP1B1 gene. Among 11 different CYP1B1 mutations identified, a frameshift mutation (c.970_971dupAT; p.T325SfsX104) was the most frequent mutant allele (6/33; 18.2%) while p.G329S and p.V419Gfs11X were novel. In the MYOC gene, two variants of unknown significance (p.L228S and p.E240G) were identified in two PCG patients (2/85; 2.4%), respectively. No patient had mutations in both genes. Conclusions: Although CYP1B1 mutations are major causes of PCG in Korea, ~70% of PCG patients have neither CYP1B1 nor MYOC mutations suggesting a high degree of genetic heterogeneity. Furthermore, the fact that 11 out of 22 patients had only one mutant allele in the CYP1B1 gene necessitates further investigation for other genetic backgrounds underlying PCG.

AB - Purpose: To elucidate the incidence of cytochrome P450 1B1 (CYP1B1) and myocillin (MYOC) mutations in Korean patients with primary congenital glaucoma (PCG). Methods: Genomic DNA was collected from peripheral blood of 85 unrelated Korean patients who were diagnosed as having PCG by standard ophthalmological examinations and screened for mutations in the CYP1B1 and MYOC genes by using bi-directional sequencing. Results: Among 85 patients with PCG, 22 patients (22/85; 25.9%) had either one (n=11) or two (n=11) mutant alleles of the CYP1B1 gene. Among 11 different CYP1B1 mutations identified, a frameshift mutation (c.970_971dupAT; p.T325SfsX104) was the most frequent mutant allele (6/33; 18.2%) while p.G329S and p.V419Gfs11X were novel. In the MYOC gene, two variants of unknown significance (p.L228S and p.E240G) were identified in two PCG patients (2/85; 2.4%), respectively. No patient had mutations in both genes. Conclusions: Although CYP1B1 mutations are major causes of PCG in Korea, ~70% of PCG patients have neither CYP1B1 nor MYOC mutations suggesting a high degree of genetic heterogeneity. Furthermore, the fact that 11 out of 22 patients had only one mutant allele in the CYP1B1 gene necessitates further investigation for other genetic backgrounds underlying PCG.

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