一个土耳其幼年型开角型青光眼家族中的新型 LTBP2 基因变异。

IF 1.2 4区 医学 Q4 GENETICS & HEREDITY
Ophthalmic Genetics Pub Date : 2024-08-01 Epub Date: 2024-04-01 DOI:10.1080/13816810.2024.2331540
Banu Bozkurt, Ozkan Bağcı, Sema Üzüm, Tülin Çora
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引用次数: 0

摘要

背景:青少年型开角型青光眼(JOAG)是原发性开角型青光眼(POAG)的一种罕见形式,发病年龄较早,在40岁之前。潜伏转化生长因子-β结合蛋白 2(LTBP-2)是一种细胞外基质蛋白,具有多域结构,与纤维蛋白同源。少数患者的 LTBP2 基因变异与 JOAG 有关。在此,我们报告了一个土耳其 JOAG 家族中 LTBP2 基因的新型错义变异:我们采集了三个兄弟姐妹(20 岁女性 JOAG 患者、26 岁男性 JOAG 患者和 15 岁女孩后胚胎毒患者)的血样进行遗传分析。他们的父亲患有中重度 POAG,24 岁的哥哥患有 JOAG。母亲和 32 岁的姐姐身体健康。虽然父母没有血缘关系,但他们来自同一个村庄:结果:两兄妹的临床外显子组测序分析发现了一个新型 c.607C>T p.(R203C) (rs777450651) LTBP2 同基因变异,而他们 15 岁的妹妹则是杂合变异。MYOC、CYP1B1或FBN1基因均无突变:我们发现了 LTBP2 基因中的一种新型错义突变,这种突变可导致严重的 JOAG,并伴有难治性眼压和进行性视神经损伤,似乎呈现常染色体隐性遗传。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A novel LTBP2 gene variant in a Turkish family with juvenile-onset open-angle glaucoma.

Background: Juvenile-onset open-angle glaucoma (JOAG) is a rare form of primary open-angle glaucoma (POAG) with an early age of onset before 40 years. Latent transforming growth factor-beta binding protein 2 (LTBP-2) is an extracellular matrix protein with a multi-domain structure and homology to fibrillins. LTBP2 gene variants have been associated with JOAG in a small number of patients. Herein, we report a novel missense variant in the LTBP2 gene in a Turkish family with JOAG.

Materials and methods: Blood samples were obtained from three siblings (a 20-year-old woman with JOAG, 26-year-old man with JOAG, and 15-year-old girl with posterior embryotoxon) for genetic analysis. Their father had moderate-severe POAG and the 24-year-old brother had JOAG. The mother and 32-year-old sister were healthy. Although the parents reported no consanguinity, they come from the same village.

Results: Clinical exome sequencing analysis of the two siblings with JOAG revealed a novel c.607C>T p.(R203C) (rs777450651) homozygous LTBP2 variant, while the variant was heterozygous in their 15-year-old sister. There were no mutations in the MYOC, CYP1B1, or FBN1 genes.

Conclusion: We documented a novel missense mutation in the LTBP2 gene leading to a severe form of JOAG with refractory IOP and progressive optic nerve damage, which seems to show autosomal recessive inheritance.

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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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