SOX2, OTX2 and PAX6 analysis in subjects with anophthalmia and microphthalmia

Lucia Mauri, Alessandra Franzoni, Manuela Scarcello, Stefano Sala, Livia Garavelli, Alessandra Modugno, Paola Grammatico, Maria Cristina Patrosso, Elena Piozzi, Alessandra Del Longo, Giovanni P. Gesu, Emanuela Manfredini, Paola Primignani, Giuseppe Damante, Silvana Penco

Research output: Contribution to journalArticlepeer-review


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 6.26Mb and 1.37Mb 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.

Original languageEnglish
Pages (from-to)66-70
Number of pages5
JournalEuropean Journal of Medical Genetics
Issue number2
Publication statusPublished - Feb 1 2015


  • Anophthalmia
  • Microphthalmia
  • OTX2
  • PAX6
  • SOX2

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)
  • Medicine(all)


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