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Sequence analysis of MYOC and CYP1B1 in a Chinese pedigree of juvenile glaucoma with goniodysgenesis

PURPOSE: This study was designed to analyze two candidate genes, myocilin (MYOC) and cytochrome P450 1B1 (CYP1B1), in a Chinese pedigree of juvenile glaucoma with goniodysgenesis. METHODS: In a three-generation family of juvenile glaucoma with goniodysgenesis (13 members), six of them were patients...

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Autores principales: Chen, Xiaoming, Yan, Naihong, Yun, Hongmin, Sun, Jingjing, Yu, Man, Zhou, Jiumo, Cao, Guiqun, Yin, Hongbo, Li, Mao, Liu, Xuyang
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2009
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2722712/
https://www.ncbi.nlm.nih.gov/pubmed/19668597
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author Chen, Xiaoming
Yan, Naihong
Yun, Hongmin
Sun, Jingjing
Yu, Man
Zhou, Jiumo
Cao, Guiqun
Yin, Hongbo
Li, Mao
Liu, Xuyang
author_facet Chen, Xiaoming
Yan, Naihong
Yun, Hongmin
Sun, Jingjing
Yu, Man
Zhou, Jiumo
Cao, Guiqun
Yin, Hongbo
Li, Mao
Liu, Xuyang
author_sort Chen, Xiaoming
collection PubMed
description PURPOSE: This study was designed to analyze two candidate genes, myocilin (MYOC) and cytochrome P450 1B1 (CYP1B1), in a Chinese pedigree of juvenile glaucoma with goniodysgenesis. METHODS: In a three-generation family of juvenile glaucoma with goniodysgenesis (13 members), six of them were patients with glaucoma and the rest were asymptomatic. All members of the family underwent complete ophthalmologic examinations. Exons of MYOC and CYP1B1 were amplified by polymerase chain reaction, sequenced, and compared with a reference database. RESULTS: Elevated intraocular pressure (IOP) and visual function impairment was found in all patients, and goniodysgenesis was noticed in five of them (nine eyes) with relatively transparent corneas. One MYOC heterozygous mutation, c.1109 C>T (P370L), in exon 3 was identified in all six patients but not in the asymptomatic family members. Two CYP1B1 single nucleotide polymorphisms (SNPs), g.3947 C>G (R48G) in exon 2 and 372−12 C>T in intron 1, were identified in all six patients and but not in the asymptomatic family members except the proband’s grandmother. Three SNPs were identified, 730 + 35 A>G in intron 2 of MYOC and g.8131 G>C (V432L) and g.8184 T>C (D449D) in exon 3 of CYP1B1. CONCLUSIONS: The presence of a P370L mutation of MYOC in all six glaucoma patients suggests a casual association between this mutation and juvenile glaucoma with goniodysgenesis. The possible role of SNPs of CYP1B1 in the pathogenesis of the disease remains to be elucidated.
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spelling pubmed-27227122009-08-07 Sequence analysis of MYOC and CYP1B1 in a Chinese pedigree of juvenile glaucoma with goniodysgenesis Chen, Xiaoming Yan, Naihong Yun, Hongmin Sun, Jingjing Yu, Man Zhou, Jiumo Cao, Guiqun Yin, Hongbo Li, Mao Liu, Xuyang Mol Vis Research Article PURPOSE: This study was designed to analyze two candidate genes, myocilin (MYOC) and cytochrome P450 1B1 (CYP1B1), in a Chinese pedigree of juvenile glaucoma with goniodysgenesis. METHODS: In a three-generation family of juvenile glaucoma with goniodysgenesis (13 members), six of them were patients with glaucoma and the rest were asymptomatic. All members of the family underwent complete ophthalmologic examinations. Exons of MYOC and CYP1B1 were amplified by polymerase chain reaction, sequenced, and compared with a reference database. RESULTS: Elevated intraocular pressure (IOP) and visual function impairment was found in all patients, and goniodysgenesis was noticed in five of them (nine eyes) with relatively transparent corneas. One MYOC heterozygous mutation, c.1109 C>T (P370L), in exon 3 was identified in all six patients but not in the asymptomatic family members. Two CYP1B1 single nucleotide polymorphisms (SNPs), g.3947 C>G (R48G) in exon 2 and 372−12 C>T in intron 1, were identified in all six patients and but not in the asymptomatic family members except the proband’s grandmother. Three SNPs were identified, 730 + 35 A>G in intron 2 of MYOC and g.8131 G>C (V432L) and g.8184 T>C (D449D) in exon 3 of CYP1B1. CONCLUSIONS: The presence of a P370L mutation of MYOC in all six glaucoma patients suggests a casual association between this mutation and juvenile glaucoma with goniodysgenesis. The possible role of SNPs of CYP1B1 in the pathogenesis of the disease remains to be elucidated. Molecular Vision 2009-08-07 /pmc/articles/PMC2722712/ /pubmed/19668597 Text en http://creativecommons.org/licenses/by/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Article
Chen, Xiaoming
Yan, Naihong
Yun, Hongmin
Sun, Jingjing
Yu, Man
Zhou, Jiumo
Cao, Guiqun
Yin, Hongbo
Li, Mao
Liu, Xuyang
Sequence analysis of MYOC and CYP1B1 in a Chinese pedigree of juvenile glaucoma with goniodysgenesis
title Sequence analysis of MYOC and CYP1B1 in a Chinese pedigree of juvenile glaucoma with goniodysgenesis
title_full Sequence analysis of MYOC and CYP1B1 in a Chinese pedigree of juvenile glaucoma with goniodysgenesis
title_fullStr Sequence analysis of MYOC and CYP1B1 in a Chinese pedigree of juvenile glaucoma with goniodysgenesis
title_full_unstemmed Sequence analysis of MYOC and CYP1B1 in a Chinese pedigree of juvenile glaucoma with goniodysgenesis
title_short Sequence analysis of MYOC and CYP1B1 in a Chinese pedigree of juvenile glaucoma with goniodysgenesis
title_sort sequence analysis of myoc and cyp1b1 in a chinese pedigree of juvenile glaucoma with goniodysgenesis
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2722712/
https://www.ncbi.nlm.nih.gov/pubmed/19668597
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