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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
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
1059-7794
E278-E283
Wyatt, Alexander
8df5e6f0-bc6a-40be-a06c-c65208ecf279
Bakrania, Preet
663124c2-a683-4026-bef7-a283cd5b8268
Bunyan, David J.
dd9134b9-f889-44cc-83cc-a41fc5d74d69
Osborne, Robert J.
8d28d125-52a6-483c-82b7-34a1cf516786
Crolla, John A.
c5f23751-8de9-4a55-9cc5-ca2fb635769c
Salt, Alison
2a352a87-6ff9-43f2-b968-6884eab13d4a
Ayuso, Carmen
f4b595b5-6a1a-4ab7-85a6-7bfdcd340628
Newbury-Ecob, Ruth
19c51a31-c905-4cd8-9953-5f7c39c17fe6
Abou-Rayyah, Y.
b1a65f8f-d94c-458a-9787-004cc13123b9
Collin, J. Richard O.
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Robinson, David
dcef4b3b-ac9b-4c1b-b8b2-1bee4b81a8cc
Ragge, Nicola
fa00d824-4a8a-4c2a-8986-cc6b4bc784ee
Wyatt, Alexander
8df5e6f0-bc6a-40be-a06c-c65208ecf279
Bakrania, Preet
663124c2-a683-4026-bef7-a283cd5b8268
Bunyan, David J.
dd9134b9-f889-44cc-83cc-a41fc5d74d69
Osborne, Robert J.
8d28d125-52a6-483c-82b7-34a1cf516786
Crolla, John A.
c5f23751-8de9-4a55-9cc5-ca2fb635769c
Salt, Alison
2a352a87-6ff9-43f2-b968-6884eab13d4a
Ayuso, Carmen
f4b595b5-6a1a-4ab7-85a6-7bfdcd340628
Newbury-Ecob, Ruth
19c51a31-c905-4cd8-9953-5f7c39c17fe6
Abou-Rayyah, Y.
b1a65f8f-d94c-458a-9787-004cc13123b9
Collin, J. Richard O.
1488b35a-388c-4eec-87b2-3c6c37f6eaf4
Robinson, David
dcef4b3b-ac9b-4c1b-b8b2-1bee4b81a8cc
Ragge, Nicola
fa00d824-4a8a-4c2a-8986-cc6b4bc784ee

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), E278-E283. (doi:10.1002/humu.20869). (Submitted)

Record type: Article

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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More information

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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