Novel heterozygous PRPH2 variant identified in a patient with spinocerebellar ataxia type 14 and macular dystrophy.

IF 1.2 4区医学 Q4 GENETICS & HEREDITY

Ophthalmic Genetics Pub Date : 2024-08-01 Epub Date: 2024-02-29 DOI:10.1080/13816810.2024.2321883

Tugche S Chen, Narin Sheri, David S Ehmann, Matthew D Benson

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引用次数: 0

Abstract

Purpose: To report on a patient with spinocerebellar ataxia type 14 (SCA14) and macular dystrophy with identification of a novel PRPH2 variant.

Methods: Case report.

Results: A 63-year-old female with molecularly confirmed SCA14 presented with symmetric pigmentary disturbances in a perifoveal distribution resembling a pattern macular dystrophy. She had no history of using medications with recognized toxic macular effects. Subsequent genetic testing confirmed a novel heterozygous missense variant of unknown significance in PRPH2 (PRPH2: c.694 G>A, p.(Ala232Thr)).

Conclusions: To our knowledge, this is the first case of macular dystrophy identified in a patient with SCA14. While it is possible that the macular dystrophy observed in this patient might be an under-reported phenotype associated with SCA14, the pattern of macular changes is consistent with PRPH2-related disorders. The identified missense variant is predicted to be damaging by most in silico models, and the residue is highly conserved, adding support to a dual genetic diagnosis in this case.

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在一名患有脊髓小脑共济失调 14 型和黄斑营养不良症的患者体内发现新的杂合 PRPH2 变异。

目的：报告一名患有脊髓小脑共济失调 14 型（SCA14）和黄斑营养不良的患者，并鉴定出一种新型 PRPH2 变体：病例报告：一名63岁的女性患者，经分子确诊患有SCA14型脊髓小脑共济失调症，表现为眼周对称性色素障碍，类似黄斑营养不良。她没有使用对黄斑有毒性作用的药物史。随后的基因检测证实，PRPH2存在一个意义不明的新型杂合子错义变异（PRPH2：c.694 G>A，p.(Ala232Thr)）：据我们所知，这是首例在 SCA14 患者中发现的黄斑营养不良病例。虽然在该患者身上观察到的黄斑营养不良可能是与 SCA14 相关的一种未被充分报道的表型，但黄斑变化的模式与 PRPH2 相关疾病是一致的。已确定的错义变异被大多数硅学模型预测为具有损伤性，而且该残基具有高度保守性，这为该病例的双重基因诊断提供了支持。

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.