Brittle cornea without clinically-evident extraocular findings in an adult harboring a novel homozygous ZNF469 mutation

被引:18
作者
Khan, Arif O. [1 ,2 ]
Aldahmesh, Mohammed A. [1 ]
Alkuraya, Fowzan S. [1 ,3 ,4 ,5 ]
机构
[1] King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia
[2] King Khalid Eye Specialist Hosp, Div Pediat Ophthalmol, Riyadh, Saudi Arabia
[3] King Saud Univ, Coll Med, Riyadh 11461, Saudi Arabia
[4] King Khalid Univ Hosp, Dept Pediat, Riyadh 11472, Saudi Arabia
[5] Alfaisal Univ, Coll Med, Dept Anat & Cell Biol, Riyadh, Saudi Arabia
关键词
PRDM5; GENE;
D O I
10.3109/13816810.2012.670362
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:257 / 259
页数:3
相关论文
共 7 条
[1]   Deleterious mutations in the zinc-finger 469 gene cause brittle cornea syndrome [J].
Abu, Almogit ;
Frydman, Moshe ;
Marek, Dina ;
Pras, Eran ;
Nir, Uri ;
Reznik-Wolf, Haike ;
Pras, Elon .
AMERICAN JOURNAL OF HUMAN GENETICS, 2008, 82 (05) :1217-1222
[2]   A novel mutation in PRDM5 in brittle cornea syndrome [J].
Aldahmesh, M. A. ;
Mohamed, J. Y. ;
Alkuraya, F. S. .
CLINICAL GENETICS, 2012, 81 (02) :198-199
[3]   ARTICULAR MOBILITY IN AN AFRICAN POPULATION [J].
BEIGHTON, P ;
SOLOMON, L ;
SOSKOLNE, CL .
ANNALS OF THE RHEUMATIC DISEASES, 1973, 32 (05) :413-418
[4]   Brittle Cornea Syndrome Associated with a Missense Mutation in the Zinc-Finger 469 Gene [J].
Christensen, Anne E. ;
Knappskog, Per M. ;
Midtbo, Marit ;
Gjesdal, Clara G. ;
Mengel-From, Jonas ;
Morling, Niels ;
Rodahl, Eyvind ;
Boman, Helge .
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2010, 51 (01) :47-52
[5]   Conditions that can be Mistaken as Early Childhood Glaucoma [J].
Khan, Arif O. .
OPHTHALMIC GENETICS, 2011, 32 (03) :129-137
[6]   Blue Sclera With and Without Corneal Fragility (Brittle Cornea Syndrome) in a Consanguineous Family Harboring ZNF469 Mutation (p.E1392X) [J].
Khan, Arif O. ;
Aldahmesh, Mohammed A. ;
Mohamed, Jawahir N. ;
Alkuraya, Fowzan S. .
ARCHIVES OF OPHTHALMOLOGY, 2010, 128 (10) :1376-1379
[7]   Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance [J].
Wright, Emma M. M. Burkitt ;
Spencer, Helen L. ;
Daly, Sarah B. ;
Manson, Forbes D. C. ;
Zeef, Leo A. H. ;
Urquhart, Jill ;
Zoppi, Nicoletta ;
Bonshek, Richard ;
Tosounidis, Ioannis ;
Mohan, Meyyammai ;
Madden, Colm ;
Dodds, Annabel ;
Chandler, Kate E. ;
Banka, Siddharth ;
Au, Leon ;
Clayton-Smith, Jill ;
Khan, Naz ;
Biesecker, Leslie G. ;
Wilson, Meredith ;
Rohrbach, Marianne ;
Colombi, Marina ;
Giunta, Cecilia ;
Black, Graeme C. M. .
AMERICAN JOURNAL OF HUMAN GENETICS, 2011, 88 (06) :767-777