Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma

被引:0
作者
Lucia Mauri
Steffen Uebe
Heinrich Sticht
Urs Vossmerbaeumer
Nicole Weisschuh
Emanuela Manfredini
Edoardo Maselli
Mariacristina Patrosso
Robert N. Weinreb
Silvana Penco
André Reis
Francesca Pasutto
机构
[1] A.O. Niguarda Ca’Granda Hospital,Medical Genetics
[2] Institute of Human Genetics,Bioinformatics
[3] Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU),Augenklinik und Poliklinik
[4] Institute of Biochemistry,Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology
[5] FAU Erlangen-Nürnberg,undefined
[6] Joahnnes Gutenberg-Universität Mainz,undefined
[7] University of Tuebingen,undefined
[8] Clinica Zucchi,undefined
[9] Shiley Eye Institute,undefined
[10] UC San Diego,undefined
来源
Orphanet Journal of Rare Diseases | / 11卷
关键词
Congenital glaucoma; Early onset glaucoma; Osteogenesis imperfecta; Whole exome sequencing;
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
相关论文
共 264 条
[1]  
Walton DS(1979)Primary congenital open angle glaucoma: a study of the anterior segment abnormalities Trans Am Ophthalmol Soc 77 746-68
[2]  
Francois J(1980)Congenital glaucoma and its inheritance Ophthalmologica 181 61-73
[3]  
Stoilov I(1997)Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21 Hum Mol Genet 6 641-7
[4]  
Akarsu AN(2009)Null mutations in LTBP2 cause primary congenital glaucoma Am J Hum Genet 84 664-71
[5]  
Sarfarazi M(2010)Heterozygous loss-of-function variants in CYP1B1 predispose to primary open-angle glaucoma Invest Ophthalmol Vis Sci 51 249-54
[6]  
Ali M(1989)Juvenile glaucoma, race, and refraction JAMA 261 249-52
[7]  
McKibbin M(2014)Genomics and anterior segment dysgenesis: a review Clin Experiment Ophthalmol 42 13-24
[8]  
Booth A(2002)Anterior segment dysgenesis and the developmental glaucomas are complex traits Hum Mol Genet 11 1185-93
[9]  
Parry DA(2007)Genotype-phenotype correlations in Axenfeld-Rieger malformation and glaucoma patients with FOXC1 and PITX2 mutations Invest Ophthalmol Vis Sci 48 228-37
[10]  
Jain P(2010)Glaucoma: genes, phenotypes, and new directions for therapy J Clin Invest 120 3064-72