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Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma
Author(s) -
Wyatt Alexander,
Bakrania Preeti,
Bunyan David J.,
Osborne Robert J.,
Crolla John A.,
Salt Alison,
Ayuso Carmen,
NewburyEcob Ruth,
AbouRayyah Y.,
Collin J. Richard O.,
Robinson David,
Ragge Nicola
Publication year - 2008
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.20869
Subject(s) - microphthalmia , anophthalmia , biology , coloboma , genetics , eye development , mutation , gene , phenotype , homeobox , frameshift mutation , transcription factor
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. © 2008 Wiley‐Liss, Inc.