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Last update

21/6/2017

Gene: GTP cyclohydrolase 1; GCH1

Gene Symbol: GCH1
OMIM: 600225
Chromosome location: 14q22.2

Related informations: NCBI Gene Genome Browser Ensembl UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD

Dystonia, DOPA-responsive, with or without hyperphenylalaninemia || c.726_727insTTCCC

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

Segawa syndrome, recessive || c.265C>T

Phenotype:	Segawa syndrome, recessive
Dna Change:	c.265C>T
Protein Change:	p.Gln89X
Mutation Type:	Substitution
Mutation Effect:	Nonsense
Location:	exon 1
Transcript:	NM_000161.2

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Spain	NA	Southern (Cordoba)	23 patients /2 families	NA	López-Laso E et al., 2009López-Laso E, Ochoa-Sepúlveda JJ, Ochoa-Amor JJ, Bescansa-Heredero E, Camino-León R, Gascón-Jiménez FJ, Mateos-González ME, Pérez-Navero JL, Lao-Villadóniga JI, Ormazabal A, Artuch R, Beyer K, . Segawa syndrome due to mutation Q89X in the GCH1 gene: a possible founder effect in Córdoba (southern Spain).. J. Neurol.. 2009; 256(11):1816-24

References

López-Laso E, Ochoa-Sepúlveda JJ, Ochoa-Amor JJ, Bescansa-Heredero E, Camino-León R, Gascón-Jiménez FJ, Mateos-González ME, Pérez-Navero JL, Lao-Villadóniga JI, Ormazabal A, Artuch R, Beyer K, Segawa syndrome due to mutation Q89X in the GCH1 gene: a possible founder effect in Córdoba (southern Spain).J. Neurol.. 2009; 256(11):1816-24

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)

Gene: GTP cyclohydrolase 1; GCH1

References