title: Identification of mutations causing hereditary tyrosinemia type I in patients of Middle Eastern origin.
abstract: Hereditary Tyrosinemia Type 1 (HT1) is an autosomal recessive disorder resulting from a deficiency of fumarylacetoacetase caused by mutations in the fumarylacetoacetate hydrolase (FAH) gene. We detected 11 novel and 6 previously described pathogenic mutations in a cohort of 43 patients originating from the Middle East with the acute form HT1. All of the mutations were homozygous and we did not find the presence of a "founder mutation".
authors.affiliation: Department of Genetics, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia. fahmad@kfshrc.edu.sa
authors.forename: Faiqa
authors.initials: F
authors.lastname: Imtiaz
authors.forename: Mohamed S
authors.initials: MS
authors.lastname: Rashed
authors.forename: Bashayer
authors.initials: B
authors.lastname: Al-Mubarak
authors.forename: Rabab
authors.initials: R
authors.lastname: Allam
authors.forename: Hanaa
authors.initials: H
authors.lastname: El-Karaksy
authors.forename: Zuhair
authors.initials: Z
authors.lastname: Al-Hassnan
authors.forename: Mohammed
authors.initials: M
authors.lastname: Al-Owain
authors.forename: Hamad
authors.initials: H
authors.lastname: Al-Zaidan
authors.forename: Zuhair
authors.initials: Z
authors.lastname: Rahbeeni
authors.forename: Alya
authors.initials: A
authors.lastname: Qari
authors.forename: Brian F
authors.initials: BF
authors.lastname: Meyer
authors.forename: Moeen
authors.initials: M
authors.lastname: Al-Sayed
mesh_terms: D016022:Case-Control Studies; D003241:Consanguinity; D004252:DNA Mutational Analysis; D004534:Egypt; D056726:Genetic Association Studies; D040941:Heredity; D006720:Homozygote; D006867:Hydrolases / Q000235:genetics*; D007492:Iran; D009154:Mutation; D012529:Saudi Arabia; D020176:Tyrosinemias / Q000235:genetics*
chemical_list: D006867:Hydrolases; C020156:fumarylacetoacetase