title: A novel heterozygous SOX2 mutation causing anophthalmia/microphthalmia with genital anomalies.
abstract: Anophthalmia/microphthalmia is a rare developmental craniofacial defect, which recognizes a wide range of causes, including chromosomal abnormalities, single-gene mutations as well as environmental factors. Heterozygous mutations in the SOX2 gene are the most common monogenic form of anophthalmia/microphthalmia, as they are reported in up to 10-15% cases. Here, we describe a sporadic patient showing bilateral anophthalmia/microphthalmia and micropenis caused by a novel mutation (c.59_60insGG) in the SOX2 gene. Morphological and endocrinological evaluations excluded any anomaly of the hypothalamus-pituitary axis. Our finding supports the hypothesis that SOX2 is particularly prone to slipped-strand mispairing, which results in a high frequency of point deletions/insertions.
authors.forename: Lucia
authors.initials: L
authors.lastname: Pedace
authors.forename: Marco
authors.initials: M
authors.lastname: Castori
authors.forename: Francesco
authors.initials: F
authors.lastname: Binni
authors.forename: Alberto
authors.initials: A
authors.lastname: Pingi
authors.forename: Barbara
authors.initials: B
authors.lastname: Grammatico
authors.forename: Salvatore
authors.initials: S
authors.lastname: Scommegna
authors.forename: Silvia
authors.initials: S
authors.lastname: Majore
authors.forename: Paola
authors.initials: P
authors.lastname: Grammatico
mesh_terms: D000853:Anophthalmos / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D001483:Base Sequence; D003241:Consanguinity; D004200:Diseases in Twins / Q000235:genetics*; D016368:Frameshift Mutation; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D008850:Microphthalmos / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D010413:Penis / Q000002:abnormalities*; D011859:Radiography; D055748:SOXB1 Transcription Factors / Q000235:genetics*; D017422:Sequence Analysis, DNA; D014429:Twins, Dizygotic
chemical_list: D055748:SOXB1 Transcription Factors