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

Faiqa Imtiaz, Mohamed S Rashed, Bashayer Al-Mubarak, Rabab Allam, Hanaa El-Karaksy, Zuhair Al-Hassnan, Mohammed Al-Owain, Hamad Al-Zaidan, Zuhair Rahbeeni, Alya Qari, Brian F Meyer, Moeen Al-Sayed

Department of Genetics, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia. fahmad@kfshrc.edu.sa

Molecular genetics and metabolism 2011 Dec

filter terms:

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". Copyright © 2011 Elsevier Inc. All rights reserved.

Citation

Faiqa Imtiaz, Mohamed S Rashed, Bashayer Al-Mubarak, Rabab Allam, Hanaa El-Karaksy, Zuhair Al-Hassnan, Mohammed Al-Owain, Hamad Al-Zaidan, Zuhair Rahbeeni, Alya Qari, Brian F Meyer, Moeen Al-Sayed. Identification of mutations causing hereditary tyrosinemia type I in patients of Middle Eastern origin. Molecular genetics and metabolism. 2011 Dec;104(4):688-90