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Last update

21/6/2017

Phenotype: Dystonia, DOPA-responsive, with or without hyperphenylalaninemia

OMIM: 128230
Inheritance: Autosomal dominant
Classification: Diseases of the nervous system

Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials

GCH1 || c.726_727insTTCCC

Gene/Locus:	GCH1
Dna Change:	c.726_727insTTCCC
Protein Change:	p.Glu243PhefsX5
Mutation Type:	Insertion
Mutation Effect:	Frameshift
Location:	exon 6
Transcript:	NM_000161.2

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Italy	NA	NA	21 patients/35 patients	NA	Uncini A et al., 2004Uncini A, De Angelis MV, Di Fulvio P, Ragno M, Annesi G, Filla A, Stuppia L, Gambi D, . Wide expressivity variation and high but no gender-related penetrance in two dopa-responsive dystonia families with a novel GCH-I mutation.. Mov. Disord.. 2004; 19(10):1139-45

References

Uncini A, De Angelis MV, Di Fulvio P, Ragno M, Annesi G, Filla A, Stuppia L, Gambi D, Wide expressivity variation and high but no gender-related penetrance in two dopa-responsive dystonia families with a novel GCH-I mutation.Mov. Disord.. 2004; 19(10):1139-45

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Phenotype: Dystonia, DOPA-responsive, with or without hyperphenylalaninemia

References