Identification of mutations causing hereditary tyrosinemia type I in patients of Middle Eastern origin

• Published in: Molecular genetics and metabolism Vol. 104; no. 4; pp. 688 - 690
• Main Authors: Imtiaz, Faiqa, Rashed, Mohamed S., Al-Mubarak, Bashayer, Allam, Rabab, El-Karaksy, Hanaa, Al-Hassnan, Zuhair, Al-Owain, Mohammed, Al-Zaidan, Hamad, Rahbeeni, Zuhair, Qari, Alya, Meyer, Brian F., Al-Sayed, Moeen
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.12.2011
• Subjects: Case-Control Studies; Consanguinity; Direct sequencing; DNA Mutational Analysis; Egypt; genes; Genetic Association Studies; Hereditary tyrosinemia type 1; Heredity; homozygosity; Homozygote; Hydrolases - genetics; Iran; Middle East; Middle eastern; Mutation; Mutations; Novel; patients; Saudi Arabia; Tyrosinemias - genetics; Saudi Arabia; Iran; Egypt; Middle East; Mutations; Novel; Hereditary tyrosinemia type 1; Middle eastern; Direct sequencing
• ISSN: 1096-7192; 1096-7206; 1096-7206
• DOI: 10.1016/j.ymgme.2011.06.019

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”.