SOX2, OTX2 and PAX6 analysis in subjects with anophthalmia and microphthalmia
| Autor: | Stefano Sala, Livia Garavelli, Elena Piozzi, Alessandra Modugno, Alessandra Franzoni, Paola Primignani, Manuela Scarcello, Alessandra Del Longo, Lucia Mauri, Silvana Penco, Paola Grammatico, Giuseppe Damante, Giovanni P. Gesu, Maria Cristina Patrosso, Emanuela Manfredini |
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| Jazyk: | angličtina |
| Rok vydání: | 2015 |
| Předmět: |
Adult
Male Adolescent PAX6 Transcription Factor In silico SOX2 Biology medicine.disease_cause Genome Microphthalmia Anophthalmia OTX2 PAX6 Young Adult Anophthalmia Microphthalmia OTX2 PAX6 SOX2 Genetics medicine Humans Microphthalmos Paired Box Transcription Factors Missense mutation Child Eye Proteins Gene Genetics (clinical) Aged Homeodomain Proteins Mutation Otx Transcription Factors SOXB1 Transcription Factors Infant Newborn Anophthalmos Infant General Medicine Middle Aged medicine.disease Repressor Proteins Italy Child Preschool Female |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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