Anophthalmia (A) and microphthalmia (M) are rare developmental anomalies
that have significant effects on visual activity. In fraction of A/M
subjects, single genetic defects have been identified as causative. In
this study we analysed 65 Italian A/M patients, 21 of whom are
syndromic, for mutations in SOX2, OTX2 and PAX6 genes. In syndromic
patients the presence of genome imbalances through array CGH was also
investigated. No mutations were found for OTX2 and PAX6 genes. Three
causative SOX2 mutations were found in subjects with syndromic A. In a
subject with syndromic signs and monolateral M, two de novo 6.26 Mb and
1.37 Mb deletions in 4q13.2q13.3 have been identified. A SOX2 missense
(p.Ala161Ser) mutation was found in 1 out of 39 a subject with
non-syndromic monolateral M. Alanine at position 161 is conserved along
phylogeny and the p.Ala161Ser mutation is estimated pathogenic by in
silico analysis. However, this mutation was also present in the
unaffected patient's daughter. (C) 2014 Elsevier Masson SAS. All rights
reserved.
