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KMID : 0359720230410020137
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Journal of the Korean Neurological Association
2023 Volume.41 No. 2 p.137 ~ p.140
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TWNK Gene Associated Perrault Syndrome Patient with Neurological Features
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Kim Hyung-Ki
Bae Jae-Young
Lim Ji-Won
Seok Jin-Myoung
Park Jong-Kyu
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Abstract
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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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KEYWORD
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Gonadal dysgenesis XX type deafness, Phenotype
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