Phenotype: Segawa syndrome, recessive


OMIM: 605407
Inheritance: Autosomal recessive
Classification: Diseases of the nervous system

Related informations: Orphanet    Gene Tests    Clinical Synopsis    Clinical Trials

TH || c.707T>C

Gene/Locus:    TH
Dna Change:    c.707T>C
Protein Change:    p.Leu236Pro
Mutation Type:    Substitution
Mutation Effect:    Missense
Location:    exon 6
Transcript:    NM_199292.2

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
GreeceNANANANAZafeiriou DI et al., 2009Zafeiriou DI, Willemsen MA, Verbeek MM, Vargiami E, Ververi A, Wevers R, . Tyrosine hydroxylase deficiency with severe clinical course.. Mol. Genet. Metab.. 2009; 97(1):18-20
GreeceNANA3 patientsNAPons R et al., 2010Pons R, Serrano M, Ormazabal A, Toma C, Garcia-Cazorla A, Area E, Ribasés M, Kanavakis E, Drakaki K, Giannakopoulos A, Orfanou I, Youroukos S, Cormand B, Artuch R, . Tyrosine hydroxylase deficiency in three Greek patients with a common ancestral mutation.. Mov. Disord.. 2010; 25(8):1086-90

GCH1 || c.265C>T

Gene/Locus:    GCH1
Dna Change:    c.265C>T
Protein Change:    p.Gln89X
Mutation Type:    Substitution
Mutation Effect:    Nonsense
Location:    exon 1
Transcript:    NM_000161.2

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
SpainNASouthern (Cordoba)23 patients /2 familiesNALópez-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

Pons R, Serrano M, Ormazabal A, Toma C, Garcia-Cazorla A, Area E, Ribasés M, Kanavakis E, Drakaki K, Giannakopoulos A, Orfanou I, Youroukos S, Cormand B, Artuch R, Tyrosine hydroxylase deficiency in three Greek patients with a common ancestral mutation.Mov. Disord.. 2010; 25(8):1086-90

Zafeiriou DI, Willemsen MA, Verbeek MM, Vargiami E, Ververi A, Wevers R, Tyrosine hydroxylase deficiency with severe clinical course.Mol. Genet. Metab.. 2009; 97(1):18-20