Novel ATF6 homozygous variant in a Chinese patient with achromatopsia.

IF 1.2 4区医学 Q4 GENETICS & HEREDITY

Ophthalmic Genetics Pub Date : 2024-04-01 Epub Date: 2024-02-29 DOI:10.1080/13816810.2024.2322643

Shijing Wu, Yinhui Yu, Yao Wang, Li Zhang, Xiaoyun Fang, Panpan Ye, Jian Ma

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引用次数: 0

Abstract

Background: ATF6-associated Achromatopsia (ACHM) is a rare autosomal recessive disorder characterized by reduction of visual acuity, photophobia, nystagmus, and poor color vision.

Methods: Detailed ophthalmological examinations were performed in a Chinese patient with ACHM. Whole exome sequencing and Sanger sequencing were performed to detect the disease-causing gene in the patient.

Results: A 6-year-old girl presented photophobia, low vision and reduced color discrimination. Small yellow lesion in the macula of both eyes was observed. FAF demonstrated hypofluorescence in the macular fovea. OCT images revealed interruption of ellipsoid and interdigitation zone in the foveal area and a loss of the foveal pit. ERG showed relatively normal rod responses and unrecordable cone responses. Sequencing result identified a novel splicing variant c.354 + 6T>C in the ATF6 gene (NM_007348.4).

Conclusions: We reported detailed clinical features and genetic analysis of a new Chinese ATF6-associated patient with ACHM.

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一名中国无色素性眼病患者的新型 ATF6 同源变异体。

背景：ATF6相关性色觉障碍（ACHM）是一种罕见的常染色体隐性遗传疾病，以视力下降、畏光、眼球震颤和色觉不良为特征：方法：对一名中国 ACHM 患者进行了详细的眼科检查。结果：一名 6 岁女孩出现畏光、眼球震颤和色觉障碍：结果：一名 6 岁女孩出现畏光、视力低下和辨色能力下降。双眼黄斑部出现小的黄色病变。FAF显示黄斑眼窝荧光不足。OCT 图像显示，眼窝区的椭圆体和连接区中断，眼窝凹缺失。ERG显示杆状反应相对正常，锥状反应无法记录。测序结果发现，ATF6基因（NM_007348.4）存在一个新的剪接变异c.354 + 6T>C：我们报告了一名新的中国ATF6相关ACHM患者的详细临床特征和基因分析。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Ophthalmic Genetics 医学-眼科学

CiteScore

2.40

自引率

8.30%

发文量

126

审稿时长

>12 weeks

期刊介绍： Ophthalmic Genetics accepts original papers, review articles and short communications on the clinical and molecular genetic aspects of ocular diseases.