Pedace Lucia, Castori Marco, Binni Francesco, Pingi Alberto, Grammatico Barbara, Scommegna Salvatore, Majore Silvia, Grammatico Paola
Eur J Med Genet. 2009 Jul-Aug;52(4):273-6. doi: 10.1016/j.ejmg.2009.02.007. Epub 2009 Feb 28.
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.
无眼/小眼畸形是一种罕见的发育性颅面缺陷，其病因多种多样，包括染色体异常、单基因突变以及环境因素。SOX2基因的杂合突变是无眼/小眼畸形最常见的单基因形式，据报道在高达10%-15%的病例中存在。在此，我们描述了一名散发患者，其因SOX2基因的一个新突变（c.59_60insGG）导致双侧无眼/小眼畸形和小阴茎。形态学和内分泌学评估排除了下丘脑-垂体轴的任何异常。我们的发现支持了SOX2特别容易发生滑链错配的假说，这导致了高频的点缺失/插入。
