Chassaing Nicolas, Vigouroux Adeline, Calvas Patrick
Genet Test Mol Biomarkers. 2009 Jun;13(3):289-90. doi: 10.1089/gtmb.2008.0143.
Microphthalmia and anophthalmia are at the severe end of the spectrum of abnormalities in ocular development. A few genes (SOX2, OTX2, RAX, and CHX10) have been implicated in isolated micro/anophthalmia, but causative mutations of these genes explain less than a quarter of these developmental defects. A specifically conserved SOX2/OTX2-mediated RAX expression regulatory sequence has recently been identified. We postulated that mutations in this sequence could lead to micro/anophthalmia, and thus we performed molecular screening of this regulatory element in patients suffering from micro/anophthalmia.
Fifty-one patients suffering from nonsyndromic microphthalmia (n = 40) or anophthalmia (n = 11) were included in this study after negative molecular screening for SOX2, OTX2, RAX, and CHX10 mutations. Mutation screening of the RAX regulatory sequence was performed by direct sequencing for these patients.
No mutations were identified in the highly conserved RAX regulatory sequence in any of the 51 patients.
Mutations in the newly identified RAX regulatory sequence do not represent a frequent cause of nonsyndromic micro/anophthalmia.
小眼症和无眼症处于眼部发育异常谱系的严重端。少数基因（SOX2、OTX2、RAX和CHX10）与孤立性小眼/无眼症有关，但这些基因的致病突变仅解释了不到四分之一的此类发育缺陷。最近发现了一个特别保守的SOX2/OTX2介导的RAX表达调控序列。我们推测该序列中的突变可能导致小眼/无眼症，因此我们对小眼/无眼症患者进行了该调控元件的分子筛查。
在对SOX2、OTX2、RAX和CHX10突变进行分子筛查呈阴性后，本研究纳入了51例非综合征性小眼症（n = 40）或无眼症（n = 11）患者。对这些患者通过直接测序进行RAX调控序列的突变筛查。
51例患者中，在高度保守的RAX调控序列中均未发现突变。
新发现的RAX调控序列中的突变并非非综合征性小眼/无眼症的常见病因。
