Novel Heterozygous OTX2 Mutations and Whole Gene Deletions in Anophthalmia, Microphthalmia and Coloboma

被引：84

作者：

Wyatt, Alexander ^{[1
]}

Bakrania, Preeti ^{[1
]}

Bunyan, David J. ^{[2
,3
]}

Osborne, Robert J. ^{[1
]}

Crolla, John A. ^{[2
,3
]}

Salt, Alison ^{[4
,5
]}

Ayuso, Carmen ^{[6
,7
]}

Newbury-Ecob, Ruth ^{[8
,9
]}

Abou-Rayyah, Y. ^{[4
]}

Collin, J. Richard O. ^{[4
]}

Robinson, David ^{[2
,3
]}

Ragge, Nicola ^{[1
,4
,10
]}

机构：

[1] Univ Oxford, Dept Physiol Anat & Genet, Oxford OX1 3QX, England

[2] Salisbury Dist Hosp, Wessex Reg Genet Lab, Salisbury SP2 8BJ, Wilts, England

[3] Salisbury Dist Hosp, Natl Genet Reference Lab Wessex, Salisbury SP2 8BJ, Wilts, England

[4] Moorfields Eye Hosp, London, England

[5] Great Ormond St Hosp Sick Children, Wolfson Inst, London, England

[6] Fdn Jimenez Diaz, Serv Genet, E-28040 Madrid, Spain

[7] ISCIII, Ctr Invest Biomed Red Enfermedades Raras CIBERER, Madrid, Spain

[8] Royal United Hosp, Bath BA1 3NG, Avon, England

[9] United Bristol Healthcare Trust, Bristol, Avon, England

[10] Birmingham Childrens Hosp, Dept Ophthalmol, Birmingham, W Midlands, England

来源：

HUMAN MUTATION | 2008年 / 29卷 / 11期

关键词：

anophthalmia; microphthalmia; OTX2; gene; coloboma;

D O I：

10.1002/humu.20869

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Severe ocular malformations, including anophthalmia-microphthalmia (AM), are responsible for around 25% of severe visual impairment in childhood. Recurrent interstitial deletions of 14q22-23 are associated with AM and a wide range of extra-ocular phenotypes including brain anomalies. The homeobox gene OTX2 is located at 14q22.3 and has recently been identified as mutated in AM patients. Eight human OTX2 mutations have been reported in subjects with severe eye malformations, including AM, and variable developmental delay. We screened a novel AM cohort for mutations and deletions in OTX2, and identified four new mutations in six individuals and two cases of whole gene deletions. Our data suggest that OTX2 mutations and deletions account for 2-3% of AM cases. (C) 2008 Wiley-Liss, Inc.

引用

页码：E278 / E283

页数：6

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