Abstract：
Autoimmune polyglandular syndrome Type 1 (APS-1) is a rare autosomal recessive disorder caused by defects in the autoimmune regulator (AIRE) gene. Patients are generally diagnosed at ages between five and fifteen years when they exhibit three or more manifestations, most typically mucocutaneous candidiasis, autoimmune Addison\'s disease, and hypoparathyroidism. Our study aims to report the first case of a Chinese APS-1 patient, presented with LCA as the initial and essential clinical feature of this rare syndrome.
Detailed medical and family history were recorded for the patient. Also, the comprehensive ophthalmological examinations were conducted. Whole exome sequencing (WES) was applied to screen pathogenic variants. Sanger sequencing validation and segregation analysis were further performed for confirmation.
A 3-year-old boy with severely impaired vision and initially referred as LCA. However, with a detailed history review, oral candidiasis, dental enamel hypoplasia, and nail candida infection were revealed. Moreover, genetic analysis revealed the homozygous c.769C>T (p.R257X) in AIRE gene (NM_000383.3) as the causative variant.
We presented one case diagnosed with APS-1 based on clinical characteristics and genetic analysis. Our study demonstrated that LCA could serve as a warning sign for APS-1 and a potential trigger of early screening, which might prevent life-threatening complications.
Detailed medical and family history were recorded for the patient. Also, the comprehensive ophthalmological examinations were conducted. Whole exome sequencing (WES) was applied to screen pathogenic variants. Sanger sequencing validation and segregation analysis were further performed for confirmation.
A 3-year-old boy with severely impaired vision and initially referred as LCA. However, with a detailed history review, oral candidiasis, dental enamel hypoplasia, and nail candida infection were revealed. Moreover, genetic analysis revealed the homozygous c.769C>T (p.R257X) in AIRE gene (NM_000383.3) as the causative variant.
We presented one case diagnosed with APS-1 based on clinical characteristics and genetic analysis. Our study demonstrated that LCA could serve as a warning sign for APS-1 and a potential trigger of early screening, which might prevent life-threatening complications.
摘要：
目的：自身免疫性多腺综合征1型（APS-1）是一种由自身免疫调节因子（AIRE）基因缺陷引起的罕见常染色体隐性遗传疾病。患者通常在5至15岁之间被诊断为表现出三种或更多种表现，最典型的粘膜皮肤念珠菌病，自身免疫性Addison病，和甲状旁腺功能减退.我们的研究旨在报告首例中国APS-1患者，以LCA作为这种罕见综合征的初始和基本临床特征。
方法：记录患者的详细病史和家族史。此外，进行了全面的眼科检查。应用全外显子组测序(WES)来筛选致病变体。进一步进行Sanger测序验证和分离分析以进行确认。
结果：一个3岁的男孩，视力严重受损，最初被称为LCA。然而,详细的历史回顾，口腔念珠菌病,牙釉质发育不全,并发现指甲念珠菌感染。此外，遗传分析显示纯合c.769C>T(p.R257X)在AIRE基因(NM_000383.3)中作为致病变体。
结论：根据临床特征和基因分析，我们介绍了一例诊断为APS-1的病例。我们的研究表明，LCA可以作为APS-1的警告信号和早期筛查的潜在触发因素，可以预防危及生命的并发症.
方法：记录患者的详细病史和家族史。此外，进行了全面的眼科检查。应用全外显子组测序(WES)来筛选致病变体。进一步进行Sanger测序验证和分离分析以进行确认。
结果：一个3岁的男孩，视力严重受损，最初被称为LCA。然而,详细的历史回顾，口腔念珠菌病,牙釉质发育不全,并发现指甲念珠菌感染。此外，遗传分析显示纯合c.769C>T(p.R257X)在AIRE基因(NM_000383.3)中作为致病变体。
结论：根据临床特征和基因分析，我们介绍了一例诊断为APS-1的病例。我们的研究表明，LCA可以作为APS-1的警告信号和早期筛查的潜在触发因素，可以预防危及生命的并发症.
