A case of paternity-confirmed de novo R124H mutation resulting in granular corneal dystrophy type 2.

IF 1 4区医学 Q4 GENETICS & HEREDITY

Ophthalmic Genetics Pub Date : 2025-06-24 DOI:10.1080/13816810.2025.2507085

Ji Sang Min, Tae-Im Kim, Kyoung-Jin Shin, Jinseok Choi, R Doyle Stulting, Eung Kweon Kim

{"title":"A case of paternity-confirmed de novo R124H mutation resulting in granular corneal dystrophy type 2.","authors":"Ji Sang Min, Tae-Im Kim, Kyoung-Jin Shin, Jinseok Choi, R Doyle Stulting, Eung Kweon Kim","doi":"10.1080/13816810.2025.2507085","DOIUrl":null,"url":null,"abstract":"Purpose: To report the first case of granular corneal dystrophy type 2 (GCD2) caused by a de novo p.(Arg124His) mutation that was confirmed by paternity testing in a 13-year-old male patient referred for the evaluation of corneal opacities in the left eye.Study design: Clinical case report.Methods: The p.(Arg124His) mutation was identified using direct Sanger sequencing of the entire TGFBI gene. The patient's parents and sister also underwent ophthalmological examination and direct Sanger sequencing of the entire TGFBI gene.Results: No abnormal findings on ophthalmic examination or genetic mutations were found in the parents. In addition, the patient's biological parents were confirmed using DNA paternity testing.Conclusion: A negative family history of GCD2 and the absence of GCD2 in the parents of patients seeking refractive surgery are not sufficient to exclude a diagnosis of GCD2 because some cases of GCD2 arise from de novo mutations. Exclusion of GCD2 before refractive surgery requires genetic analysis for the p.(Arg124His) mutation.","PeriodicalId":19594,"journal":{"name":"Ophthalmic Genetics","volume":" ","pages":"1-3"},"PeriodicalIF":1.0000,"publicationDate":"2025-06-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Ophthalmic Genetics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1080/13816810.2025.2507085","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}

引用次数: 0

Abstract

Purpose: To report the first case of granular corneal dystrophy type 2 (GCD2) caused by a de novo p.(Arg124His) mutation that was confirmed by paternity testing in a 13-year-old male patient referred for the evaluation of corneal opacities in the left eye.Study design: Clinical case report.

Methods: The p.(Arg124His) mutation was identified using direct Sanger sequencing of the entire TGFBI gene. The patient's parents and sister also underwent ophthalmological examination and direct Sanger sequencing of the entire TGFBI gene.

Results: No abnormal findings on ophthalmic examination or genetic mutations were found in the parents. In addition, the patient's biological parents were confirmed using DNA paternity testing.

Conclusion: A negative family history of GCD2 and the absence of GCD2 in the parents of patients seeking refractive surgery are not sufficient to exclude a diagnosis of GCD2 because some cases of GCD2 arise from de novo mutations. Exclusion of GCD2 before refractive surgery requires genetic analysis for the p.(Arg124His) mutation.

查看原文本刊更多论文

1例父本证实的新生R124H突变导致颗粒状角膜营养不良2型。

目的：报告第一例由新生蛋白（Arg124His）突变引起的颗粒状角膜营养不良2型（GCD2），该突变在一名13岁男性患者的亲子鉴定中得到证实，该患者被转诊以评估左眼角膜混浊。研究设计：临床病例报告。方法：采用TGFBI全基因直接Sanger测序法鉴定p.（Arg124His）突变。患者的父母和妹妹也接受了眼科检查，并对TGFBI全基因进行了直接Sanger测序。结果：父母眼科检查未见异常，基因未见突变。此外，通过DNA亲子鉴定确认了患者的亲生父母。结论：GCD2家族史阴性和寻求屈光手术患者的父母缺乏GCD2并不足以排除GCD2的诊断，因为一些GCD2病例是由新生突变引起的。在屈光手术前排除GCD2需要对p.（Arg124His）突变进行基因分析。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

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.