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Abstract：
SOX2 variants and deletions are a common cause of anophthalmia and microphthalmia (A/M). This article presents data from a cohort of patients with SOX2 variants, some of whom have been followed for 20+ years. Medical records from patients enrolled in the A/M Research Registry and carrying SOX2 variants were reviewed. Thirty-seven patients were identified, ranging in age from infant to 30 years old. Eye anomalies were bilateral in 30 patients (81.1%), unilateral in 5 (13.5%), and absent in 2 (5.4%). Intellectual disability was present in all with data available and ranged from mild to profound. Seizures were noted in 18 of 27 (66.6%) patients, usually with abnormal brain MRIs (10/15, 66.7%). Growth issues were reported in 14 of 21 patients (66.7%) and 14 of 19 (73.7%) had gonadotropin deficiency. Genitourinary anomalies were seen in 15 of 19 (78.9%) male patients and 5 of 15 (33.3%) female patients. Patients with SOX2 nucleotide variants, whole gene deletions or translocations are typically affected with bilateral or unilateral microphthalmia and anophthalmia. Other associated features include intellectual disability, seizures, brain anomalies, growth hormone deficiency, gonadotropin deficiency, and genitourinary anomalies. Recommendations for newly diagnosed patients with SOX2 variants include eye exams, MRI of the brain and orbits, endocrine and neurology examinations. Since the clinical spectrum associated with SOX2 alleles has expanded beyond the originally reported phenotypes, we propose a broader term, SOX2-associated disorder, for this condition.
摘要：
SOX2变体和缺失是无眼症和小眼症(A/M)的常见原因。本文介绍了一组SOX2变异患者的数据，其中一些人已经被跟踪了20多年。审查了A/M研究注册中心登记并携带SOX2变体的患者的医疗记录。确定了37名患者，年龄从婴儿到30岁不等。30例(81.1%)患者的眼部异常为双侧,5中的单边（13.5％），2例(5.4%)不存在。智力残疾存在于所有可用数据中，范围从轻度到重度。27例患者中有18例(66.6%)出现癫痫发作，通常脑MRI异常（10/15，66.7％）。21例患者中有14例（66.7％）和19例中有14例（73.7％）存在促性腺激素缺乏症。在19例男性患者中的15例（78.9％）和15例女性患者中的5例（33.3％）中发现了泌尿生殖系统异常。SOX2核苷酸变异的患者，全基因缺失或易位通常会受到双侧或单侧小眼和无眼的影响.其他相关特征包括智力障碍，癫痫发作,大脑异常,生长激素缺乏,促性腺激素缺乏，和泌尿生殖系统异常.新诊断的SOX2变异患者的建议包括眼科检查，大脑和轨道的核磁共振成像，内分泌和神经学检查。由于与SOX2等位基因相关的临床谱已经超出了最初报道的表型，我们提出了一个更广泛的术语，SOX2相关疾病，对于这个条件。
