alexa Genotype-Phenotype Correlation - Two Families with GCH1
ISSN: 2379-1764

Advanced Techniques in Biology & Medicine
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Genotype-Phenotype Correlation - Two Families with GCH1 Mutations

Ya-Ping Yan1 and Bo Zhang2*

1Department of Neurology, Second Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou 310009, PR China

2Department of Surgery, Second Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou 310009, PR China

Corresponding Author:
Dr. Bo Zhang
Department of Surgery
Second Affiliated Hospital, School of Medicine
Zhejiang University, No. 88 Jiefang Road, Hangzhou
Zhejiang 310009, PR China
Tel: +8657187783563
E-mail: [email protected]

Received date: May 16, 2017; Accepted date: May 22, 2017; Published date: May 29, 2017

Citation: Yan YP, Zhang B (2017) Genotype-Phenotype Correlation - Two Families with GCH1 Mutations. Adv Tech Biol Med 5:225. doi:10.4172/2379-1764.1000225

Copyright: © 2017 Yan YP, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.



Dopa-responsive dystonia (DRD), attributed to GTP cyclohydrolase 1 (GCH1) mostly, is a clinically and genetically heterogeneous disorder. Our recent study have identified that phenotype may not be identical to genotype, even in the same family. One patient with parkinsonism was found to carry GCH1 mutation. Why phenotype is not correlated to genotype? Whether GCH1 is a risk factor for developing Parkinson’s disease (PD)? Further genetic and clinical studies are necessary to elucidate these questions.


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