SOX2, OTX2 and PAX6 analysis in subjects with anophthalmia and microphthalmia.
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.
['Mauri|Lucia|L|', 'Franzoni|Alessandra|A|', 'Scarcello|Manuela|M|', 'Sala|Stefano|S|', 'Garavelli|Livia|L|', 'Modugno|Alessandra|A|', 'Grammatico|Paola|P|', 'Patrosso|Maria Cristina|MC|', 'Piozzi|Elena|E|', 'Del Longo|Alessandra|A|', 'Gesu|Giovanni P|GP|', 'Manfredini|Emanuela|E|', 'Primignani|Paola|P|', 'Damante|Giuseppe|G|', 'Penco|Silvana|S|']
D000293:Adolescent D000328:Adult D000368:Aged D000853:Anophthalmos D002648:Child D002675:Child, Preschool D005136:Eye Proteins D005260:Female D018398:Homeodomain Proteins D006801:Humans D007223:Infant D007231:Infant, Newborn D007558:Italy D008297:Male D008850:Microphthalmos D008875:Middle Aged D009154:Mutation D051857:Otx Transcription Factors D000071841:PAX6 Transcription Factor D051761:Paired Box Transcription Factors D012097:Repressor Proteins D055748:SOXB1 Transcription Factors D055815:Young Adult
SOX2 OTX2 PAX6 Anophthalmia Microphthalmia