与神经系统特征相关的TWNK基因佩诺特综合征患者

Journal of the Korean Neurological Association Pub Date : 2023-05-01 DOI:10.17340/jkna.2023.2.6

Hyung Ki Kim, Jae Young Bae, J. Lim, J. Seok, Jongkyu Park

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引用次数: 0

摘要

Perrault综合征5是一种罕见的常染色体隐性遗传病，其特征是女性感音神经性听力损失和卵巢发育不良，并伴有由眨眼mtDNA解旋酶(TWNK)基因变异引起的多种神经功能缺陷。由于神经功能缺损是逐渐发生的，患者在早期常被误诊为其他神经系统疾病。在此，我们报告一例基因诊断的佩诺特综合征5。

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TWNK Gene Associated Perrault Syndrome Patient with Neurological Features

Perrault syndrome 5 is a rare autosomal recessive disorder that is characterized by the association of sensorineural hearing loss and ovarian dysgenesis in females with diversity of neurologic deficits due to variants of twinkle mtDNA helicase (TWNK) gene. Since neurologic deficits develop gradually, patient is often misdiagnosed with other neurological disease during early age. Herein, we report a case of genetically diagnosed Perrault syndrome 5.

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Journal of the Korean Neurological Association

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