| 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 |
| 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 |
| 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 |
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