Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma
Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma
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
anophthalmia, microphthalmia, OTX2 gene, coloboma
E278-E283
Wyatt, Alexander
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Bakrania, Preet
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Bunyan, David J.
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Osborne, Robert J.
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Crolla, John A.
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Salt, Alison
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Ayuso, Carmen
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Newbury-Ecob, Ruth
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Abou-Rayyah, Y.
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Collin, J. Richard O.
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Robinson, David
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Ragge, Nicola
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Wyatt, Alexander
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Bakrania, Preet
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Bunyan, David J.
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Osborne, Robert J.
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Crolla, John A.
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Salt, Alison
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Ayuso, Carmen
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Newbury-Ecob, Ruth
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Abou-Rayyah, Y.
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Collin, J. Richard O.
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Robinson, David
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Ragge, Nicola
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Wyatt, Alexander, Bakrania, Preet, Bunyan, David J., Osborne, Robert J., Crolla, John A., Salt, Alison, Ayuso, Carmen, Newbury-Ecob, Ruth, Abou-Rayyah, Y., Collin, J. Richard O., Robinson, David and Ragge, Nicola
(2008)
Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma.
Human Mutation, 29 (11), .
(doi:10.1002/humu.20869).
(Submitted)
Abstract
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
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Submitted date: November 2008
Additional Information:
Special Issue. Assessing Mutation Pathogenicity in Cancer Susceptibility Genes
Keywords:
anophthalmia, microphthalmia, OTX2 gene, coloboma
Identifiers
Local EPrints ID: 69948
URI: http://eprints.soton.ac.uk/id/eprint/69948
ISSN: 1059-7794
PURE UUID: 269541fc-f213-47d4-8b74-b2eaf676f10c
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Date deposited: 11 Dec 2009
Last modified: 13 Mar 2024 19:52
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Contributors
Author:
Alexander Wyatt
Author:
Preet Bakrania
Author:
David J. Bunyan
Author:
Robert J. Osborne
Author:
John A. Crolla
Author:
Alison Salt
Author:
Carmen Ayuso
Author:
Ruth Newbury-Ecob
Author:
Y. Abou-Rayyah
Author:
J. Richard O. Collin
Author:
David Robinson
Author:
Nicola Ragge
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