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

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
ItalyNANA21 patients/35 patientsNAUncini 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