Clinical sequencing of the retinitis pigmentosa gene RPGR in over 1,000 cases of vision loss.

IF 1.8 3区医学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY

Molecular Vision Pub Date : 2024-02-19 eCollection Date: 2024-01-01

Madhulatha Pantrangi, Julie Rath, Nicole Kaetterhenry, Kari Branham, Dana Talsness, James L Weber

引用次数: 0

Abstract

RPGR pathogenic variants are the major cause of X-linked retinitis pigmentosa. Here, we report the results from 1,033 clinical DNA tests that included sequencing of RPGR. A total of 184 RPGR variants were identified: 78 pathogenic or likely pathogenic, 14 uncertain, and 92 likely benign or benign. Among the pathogenic and likely pathogenic variants, 23 were novel, and most were frameshift or nonsense mutations (87%) and enriched (67%) in RPGR exon 15 (ORF15). Identical pathogenic variants found in different families were largely on different haplotype backgrounds, indicating relatively frequent, recurrent RPGR mutations. None of the 16 mother/affected son pairs showed de novo mutations; all 16 mothers were heterozygous for the pathogenic variant. These last two observations support the occurrence of most RPGR mutations in the male germline.

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对 1,000 多例视力丧失病例中的视网膜色素变性基因 RPGR 进行临床测序。

RPGR 致病变体是 X 连锁视网膜色素变性症的主要病因。在此，我们报告了 1033 例临床 DNA 检测的结果，其中包括 RPGR 的测序。共鉴定出 184 个 RPGR 变异：78个致病或可能致病，14个不确定，92个可能良性或良性。在致病性和可能致病的变异中，23 个是新变异，大多数是框移或无义突变（87%），且富集在 RPGR 第 15 外显子（ORF15）（67%）。在不同家族中发现的相同致病变异大多具有不同的单倍型背景，这表明RPGR突变相对频繁且具有复发性。在16对母亲/受影响的儿子中，没有一对出现从头突变；所有16位母亲都是致病变体的杂合子。最后两项观察结果支持大多数 RPGR 突变发生在男性种系中。

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

Molecular Vision 生物-生化与分子生物学

CiteScore

4.40

自引率

0.00%

发文量

审稿时长

1 months

期刊介绍： Molecular Vision is a peer-reviewed journal dedicated to the dissemination of research results in molecular biology, cell biology, and the genetics of the visual system (ocular and cortical). Molecular Vision publishes articles presenting original research that has not previously been published and comprehensive articles reviewing the current status of a particular field or topic. Submissions to Molecular Vision are subjected to rigorous peer review. Molecular Vision does NOT publish preprints. For authors, Molecular Vision provides a rapid means of communicating important results. Access to Molecular Vision is free and unrestricted, allowing the widest possible audience for your article. Digital publishing allows you to use color images freely (and without fees). Additionally, you may publish animations, sounds, or other supplementary information that clarifies or supports your article. Each of the authors of an article may also list an electronic mail address (which will be updated upon request) to give interested readers easy access to authors.