PHARC 综合征--一种伴有视网膜色素变性和白内障的超罕见综合征:病例报告和文献综述。

IF 1.2 4区 医学 Q4 GENETICS & HEREDITY
Ophthalmic Genetics Pub Date : 2024-04-01 Epub Date: 2024-01-08 DOI:10.1080/13816810.2023.2289449
Senol Demir, Mehmet Orkun Sevik, Aysenur Ersoy, Bilgen Bilge Geckinli, Ozlem Sahin, Esra Arslan Ates
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引用次数: 0

摘要

背景:PHARC 综合征(MIM:612674)是一种罕见的神经退行性疾病,以脱髓鞘性多发性神经病、听力损失、共济失调、色素性视网膜炎和白内障(PHARC)为特征。该综合征是由 ABHD12 基因突变引起的,该基因编码与内源性大麻素代谢有关的 αβ-hydrolase domain-containing protein 12。PHARC 综合征是罕见病之一,迄今为止,文献中仅报道了 51 例患者:我们对一名因视力下降、白内障和听力损失而转诊的 25 岁男性患者进行了评估。方法:我们对因视力下降、白内障和听力损失而转诊的 25 岁男性患者进行了评估,并使用靶向新一代测序技术进行了眼科检查和基因分析:结果:在基因分析中,通过检测 ABHD12 基因中的同型 (NM_001042472.3):c.871del (p.Tyr291IlefsTer28) 新型致病变异,该患者被诊断为 PHARC 综合征。分子诊断后,他被转到神经内科进行反向表型检查,在神经系统评估中发现了感觉运动性脱髓鞘性多发性神经病:在本研究中,我们报告了第一例土耳其裔 PHARC 患者 ABHD12 基因的新型变异。我们通过这项研究为 PHARC 综合征的基因型-表型相关性做出了贡献,并强调了分子基因诊断的重要性,以便确定适当的临床方法。该报告对于扩展不同人群的表型谱以及通过 ABHD12 基因的新型致病变异了解 PHARC 综合征的基因型与表型相关性至关重要。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
PHARC syndrome which an ultra-rare syndrome with retinitis pigmentosa and cataracts: case report and review of the literature.

Background: PHARC syndrome (MIM:612674) is a rare neurodegenerative disorder characterized by demyelinating polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataracts (PHARC). The syndrome is caused by mutations in the ABHD12 gene, which encodes αβ-hydrolase domain-containing protein 12 related to endocannabinoid metabolism. PHARC syndrome is one of the rare diseases; so far, only 51 patients have been reported in the literature.

Methods: We evaluated the 25-year-old male patient referred to us due to vision loss, cataracts, and hearing loss. Ophthalmological examinations and genetic analyses were performed using targeted next-generation sequencing.

Results: In the genetic analysis, the patient was diagnosed with PHARC syndrome by detecting homozygous (NM_001042472.3): c.871del (p.Tyr291IlefsTer28) novel pathogenic variation in the ABHD12 gene. Following the molecular diagnosis, he was referred to the neurology department for reverse phenotyping and sensorimotor demyelinating polyneuropathy was detected in the neurological evaluation.

Conclusions: In this study, we report a novel variation in ABHD12 gene in the first Turkish-origin PHARC patient. We present this study to contribute genotype-phenotype correlation of PHARC syndrome and emphasize the importance of molecular genetic diagnosis in order to determine the appropriate clinical approach. This report is essential for expanding the phenotypic spectrum in different populations and understanding the genotype-phenotype correlation of PHARC syndrome via novel pathogenic variation in the ABHD12 gene.

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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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