PDF(Pubmed)
Abstract：
A 10-year-old girl presented with left-eye esotropia and fixed mydriasis. Previously, she had been diagnosed with cerebellar ataxia and mild intellectual disability. Her parents were healthy. She was found to have partial aniridia of the pupillary sphincter bilaterally. A next-generation sequencing test for the inositol 1,4,5-trisphosphate type 1 receptor (ITPR1) gene was performed, revealing a previously unreported homozygous variant of uncertain significance at c.7610. Computational (In Silico) predictive models predicted this variant to be disease causing. With the arrival of DNA sequencing, aniridia can be genetically classified. In this case report, we present a patient with phenotypic features of Gillespie\'s syndrome with a homozygous variant in the ITPR1 gene that has not previously been reported.
摘要：
一名10岁女孩出现左眼内斜视和固定散瞳。以前,她被诊断患有小脑共济失调和轻度智力障碍。她的父母很健康。发现她双侧瞳孔括约肌部分无虹膜。对肌醇1,4,5-三磷酸1型受体（ITPR1）基因进行了下一代测序测试，揭示了一个以前未报道的纯合变体，在c.7610具有不确定的意义。计算(在Silico中)预测模型预测该变异是致病的。随着DNA测序的到来,无虹膜可以被基因分类。在这个案例报告中,我们介绍了1例具有Gillespie综合征表型特征的患者,该患者的ITPR1基因存在纯合变异,这在以前没有报道过.
