Novel mutation of IFT140 in an infant with Mainzer-Saldino syndrome presenting with retinal dystrophy.

患有视网膜营养不良的 Mainzer - Saldino 综合征的婴儿中 IFT140 的新突变。

• 影响指数: 2.082
• 发表时间: Dec 2022
• 来源期刊: Mol Genet Metab Rep
• DOI: 10.1016/j.ymgmr.2022.100937
• PMID: 36393898
• 文章类型: Journal Article
• 作者列表: Yeh TC,Niu DM,Cheng HC,Chen YR,Chen LZ,Tsui SP,Liao TE,Wang AG,Yang CF

关键词: Mainzer-Saldino syndrome; Retinal dystrophy; Whole exome sequencing

Abstract

A seven-month-old girl presented with bilateral roving nystagmus, hyperopia, and retinal dystrophy, and was brought to our ophthalmology clinic. Visual-evoked potentials (VEPs) were non-recordable in both the eyes. No other systemic symptoms or abnormalities were observed. Whole exome sequencing (WES) identified a compound heterozygous mutation in the IFT140 gene: c.1990G > A (p. Glu664Lys) and c.2214_2217del (p.Asp738GlufsTer47). The genetic results support a diagnosis of Mainzer-Saldino syndrome (MSS). Importantly, c.2214_2217del is a novel mutation in the IFT140 gene. Although the patient presents with isolated retinal dystrophy, it is crucial to monitor renal function overtime. Taken together, our results reinforce the role of IFT140 in syndromic ciliopathies. This report also highlights the role of combined WES approaches in identifying underlying mutations in infants presenting with isolated retinal dystrophy, considering MSS may present differently over time.

摘要

一个七个月大的女孩出现了双侧巡回眼球震颤，远视,视网膜营养不良,被带到我们的眼科诊所.双眼都无法记录视觉诱发电位（VEP）。未观察到其他全身症状或异常。全外显子组测序（WES）鉴定了IFT140基因中的复合杂合突变：c.1990G>A（p。Glu664Lys）和c.2214_2217del（p。Asp738GlufsTer47）。遗传结果支持Mainzer-Saldino综合征（MSS）的诊断。重要的是,c.2214_2217del是IFT140基因中的新突变。尽管患者出现孤立的视网膜营养不良，监测肾功能超时至关重要。一起来看,我们的结果加强了IFT140在综合征性纤毛病变中的作用。该报告还强调了联合WES方法在识别患有孤立性视网膜营养不良的婴儿的潜在突变中的作用。考虑到MSS可能会随着时间的推移而呈现不同的情况。