Biallelic novel variants in ZNF469 causing Brittle Cornea Syndrome 1: a detailed report of an Indian patient.

IF 1.2 4区 医学 Q4 GENETICS & HEREDITY
Ophthalmic Genetics Pub Date : 2024-06-01 Epub Date: 2024-01-30 DOI:10.1080/13816810.2024.2303690
Shifali Gupta, Anu Kumari, Roshan Daniel, Sonam Yangzes, Priyanka Srivastava, Anupriya Kaur
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引用次数: 0

Abstract

Background: Variations in ZNF469 have been associated with Brittle Cornea Syndrome that presents with bluish sclera, loss of vision after trivial trauma, arachnodactyly, and joint laxity.

Materials and methods: Detailed medical and family history, physical examination, and molecular analysis.

Results: A 21-year-old female presented with bluish discoloration of sclera, diminution of vision following trivial trauma in childhood along with hearing loss and systemic features of arachnodactyly and joint laxity. Clinical diagnosis of brittle cornea syndrome was made which was molecularly proven using next-generation sequencing which identified compound heterozygosity in ZNF469 for pathogenic and likely pathogenic nonsense variants. One variant namely NM_001367624.2:c.5882dup was identified in the exon 3 which was novel and classified as likely pathogenic according to American College of Medical Genetics (ACMG) criteria for variant classification. Another variant NM_001367624.2:c.8992C>T in the exon 2 was classified as pathogenic for Brittle Cornea Syndrome 1.

Conclusions: The report adds to the allelic heterogeneity in ZNF469 causative of Brittle Cornea Syndrome 1 and shall acquaint the physicians about this potentially vision threatening, underdiagnosed, rare syndrome.

导致脆性角膜综合征 1 的 ZNF469 双唇新型变体:一名印度患者的详细报告。
背景:ZNF469变异与脆性角膜综合征(Brittle Cornea Syndrome)有关,该综合征表现为巩膜发蓝、轻微外伤后视力丧失、蛛网膜畸形和关节松弛:详细病史和家族史、体格检查和分子分析:结果:一名 21 岁的女性因巩膜变蓝、儿童时期因轻微外伤导致视力下降、听力下降以及蛛网膜畸形和关节松弛等全身特征而就诊。临床诊断为脆性角膜综合征,并通过新一代测序技术进行了分子鉴定,确定了 ZNF469 中致病性和可能致病的无义变体的复合杂合性。根据美国医学遗传学会(ACMG)的变异分类标准,在第3外显子中发现了一个新变异,即NM_001367624.2:c.5882dup,该变异被归类为可能致病变异。另一个位于第 2 外显子的变异 NM_001367624.2:c.8992C>T 被列为脆性角膜综合征 1 的致病基因:该报告增加了 ZNF469 中导致脆性角膜综合征 1 的等位基因异质性,并将使医生了解这种可能威胁视力、诊断不足的罕见综合征。
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来源期刊
Ophthalmic Genetics
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.
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