Glaucoma phenotype in a large Chinese family with myocilin Val251Ala mutation

Lu Hong; Chen Ying; Kong Yanan; Liu Xingxing; Li Na; Zhang Shuqiang; Xu Hui

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Glaucoma phenotype in a large Chinese family with myocilin Val251Ala mutation

机译：用肌菌素Val251Ala突变的大型中国家庭中的青光眼表型

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Family study is an effective way to identify disease-causing mutations (DCMs) and characterize the clinical phenotype of genetic diseases. In this study we recruited a Chinese primary open-angle glaucoma (POAG) family spanning six generations and consisting 112 individuals, in which 63 were participated in. Targeted exome sequencing on the proband identified a heterozygous mutation (c.752T > C, p.Val251Ala) in MYOC gene. Sanger sequencing performed on all participants found that fourteen family members carried this mutation. Ten (71.4%) of them were diagnosed with POAG, two (14.3%) with ocular hypertension (OHT) and two (14.3%) without manifestations of glaucoma. According to the results of ophthalmic examinations of the family members and their medical history, we found that the Val251Ala mutation was associated with clinical phenotype including intermediate penetrance, high intraocular pressure (IOP), severe visual defects and requirement of surgery.

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来源
《Genomics》 |2020年第6期|共7页
作者
Lu Hong; Chen Ying; Kong Yanan; Liu Xingxing; Li Na; Zhang Shuqiang; Xu Hui;
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作者单位

Nantong Univ Affiliated Hosp Dept Ophthalmol Eye Inst 20 Xisi Rd Nantong 226001 Jiangsu;

Nantong Univ Affiliated Hosp Dept Ophthalmol Eye Inst 20 Xisi Rd Nantong 226001 Jiangsu;

Nantong Univ Affiliated Hosp Dept Ophthalmol Eye Inst 20 Xisi Rd Nantong 226001 Jiangsu;

Nantong Univ Affiliated Hosp Dept Ophthalmol Eye Inst 20 Xisi Rd Nantong 226001 Jiangsu;

Nantong Univ Affiliated Hosp Dept Ophthalmol Eye Inst 20 Xisi Rd Nantong 226001 Jiangsu;

Nantong Univ Key Lab Neuroregenerat Jiangsu Nantong Jiangsu Peoples R China;

Nantong Univ Key Lab Neuroregenerat Jiangsu Nantong Jiangsu Peoples R China;

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原文格式 PDF
正文语种 eng
中图分类医学遗传学;
关键词
MYOC; POAG; Val251Ala; Phenotype;

机译：myoc;诗;Val201a;表型;

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1. Identification of Mutations in Myocilin and Beta-1,4-galactosyltransferase 3 Genes in a Chinese Family with Primary Open-angle Glaucoma [J] . Rong-Feng Liao, Zi-Lin Zhong, Min-Jie Ye, 中华医学杂志（英文版） . 2016,第023期
2. Analysis of MYOC gene mutation in a Chinese glaucoma family with primary open-angle glaucoma and primary congenital glaucoma [J] . ZHUO Ye-hong, WANG Mei, WEI Yan-tao, 中华医学杂志（英文版） . 2006,第014期
3. Identification of a novel lethal fibrillin-1 gene mutation in a Chinese Marfan family and correlation of 3＇ fibrillin-1 gene mutations with phenotype [J] . GAO Ling-gen, ZHANG Lin, SONG Lei, 中华医学杂志：英文版 . 2010,第020期
4. Identification of a novel lethal fibrillin-1 gene mutation in a Chinese Marfan family and correlation of 3'fibrillin-1 gene mutations with phenotype [J] . GAO Ling-gen, ZHANG Lin, SONG Lei, 中华医学杂志（英文版） . 2010,第020期
5. A novel phenotype with splicing mutation identified in a Chinese family with desminopathy [J] . Peng Fan, Hui-Qiong Tan, Li-Tian Yu, 中华医学杂志（英文版） . 2019,第002期
6. Penetrance and phenotype of the Thr377Met Myocilin mutation in a large Finnish family with juvenile- and adult-onset primary open-angle glaucoma. [J] . Puska P, Lemmela S, Kristo P, Ophthalmic genetics . 2005,第1期

机译：在一个患有青少年和成人发作的原发性开角型青光眼的芬兰大家庭中，Thr377Met Myocilin突变的渗透率和表型。
7. Penetrance and phenotype of the Cys433Arg myocilin mutation in a family pedigree with primary open-angle glaucoma. [J] . de Vasconcellos JP, de Melo MB, Schimiti R, Journal of glaucoma . 2003,第2期

机译：Cys433Arg myocilin突变的血统和表型与原发性开角型青光眼的系谱。
8. The clinical feature of myocilin Y437H mutation in a Chinese family with primary open-angle glaucoma [J] . Lei Lei, Shushan Li, Xiangyun Liu, British journal of ophthalmology . 2019,第10期

机译：肌菌素Y437H突变在中国家庭中肌钙蛋白Y437H突变的临床特征
9. One germline mutation of PTCH gene in a Chinese family with non-syndromic keratocystic odontogenic tumours [C] . X. Wang, Y. Lu, G. Shen, Academic Committee Conference of Shanghai key lab of stomatology . 2011

机译：非综合征性角化囊性牙源性肿瘤的中国家庭中PTCH基因的一个种系突变
10. Biochemical and sequence similarities between the TIGR/myocilin and olfactomedin protein families and the effects of TIGR in primary open angle glaucoma. [D] . Green, Michelle Lynn. 2001

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11. Anticipation anti-glaucoma drug treatment response and phenotype of a Chinese family with glaucoma caused by the Pro370Leu myocilin mutation [O] . Chun-Mei Li, Yue-Hong Zhang, Rong-Hua Ye, 2014

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12. Identification of Mutations in Myocilin and Beta-1,4-galactosyltransferase 3 Genes in a Chinese Family with Primary Open-angle Glaucoma [O] . Rong-Feng Liao, Zi-Lin Zhong, Min-Jie Ye, 2016

机译：中国原发性开角型青光眼家系myocilin和β-1,4-半乳糖基转移酶3基因突变的鉴定
13. Ethyl Methanesulfonate-Induced Mutations of Major Genes for Quantitative Phenotypes: Mutant Alleles for Altered Activity of Brain or Liver Enzymes in C57BL/6J Mice and Their Inheritance Across Several Generations [R] . McGarrity, L. J. 1984

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Glaucoma phenotype in a large Chinese family with myocilin Val251Ala mutation

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