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KMID : 1189120200170010034
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대한의학유전학회지
2020 Volume.17 No. 1 p.34 ~ p.38
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Dopa-responsive dystonia with additional unusual clinical features: A case report confirmed by molecular genetics
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Lee Woong-Woo
Choi Jong-Moon
Lee Cha-Gon
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Abstract
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The term dopa-responsive dystonia (DRD) is used to describe a group of neurometabolic disorders, which are characterized by dystonia, and are typically associated with diurnal fluctuations and respond to levodopa treatment. Autosomal dominant DRD (DYT5a, MIM# 128230) is caused by a heterozygous mutation in the GTP cyclohydrolase 1 (GCH1) gene (MIM# 600225). GCH1 encodes an enzyme, which is involved in the biosynthesis of tetrahydrobiopterin, an essential co-factor for tyrosine hydroxylase. Herein, we report the case of a 16-year-old girl who was diagnosed with DYT5a. She exhibited additional unusual clinical features, including intellectual disability, depression, multiple skeletal anomalies, and short stature, which are not commonly observed in patients with DYT5a. The patient harbored a heterozygous missense variant, c.539A>C, p.Gln180Pro, in the GCH1 gene, which was identified by targeted gene panel analysis using next-generation sequencing.
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KEYWORD
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Dystonia, Dopa-responsive, Autosomal dominant, GCH1, Intellectual disability, Depression
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