Genotype-Phenotype Correlation - Two Families with GCH1 MutationsYa-Ping Yan1 and Bo Zhang2*
- 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
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.