Dopa-responsive dystonia with additional unusual clinical features: A case report confirmed by molecular genetics

• 발행기관: 대한의학유전학회
• 저자명: Woong-Woo Lee Jong-Moon Choi Cha Gon Lee
• 간행물 정보: 『대한의학유전학회지』제17권 제1호, 34~38쪽, 전체 5쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2020.06.30

영문 초록

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 domi-nant 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 ad-ditional 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.

목차

Introduction

Case

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References

키워드

Dystonia Dopa-responsive Autosomal dominant GCH1 Intellectual disability Depression