A novel heterozygous SOX2 mutation causing anophthalmia/microphthalmia with genital anomalies

作者:Pedace Lucia*; Castori Marco; Binni Francesco; Pingi Alberto; Grammatico Barbara; Scommegna Salvatore; Majore Silvia; Grammatico Paola
来源:European Journal of Medical Genetics, 2009, 52(4): 273-276.
DOI:10.1016/j.ejmg.2009.02.007

摘要

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.

  • 出版日期2009-8