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Mutation analysis of the FAH gene in Israeli patients with tyrosinemia type I
Author(s) -
Elpeleg Orly N.,
Shaag Avraham,
Holme Elizabeth,
Zughayar Ghaleb,
Ronen Suzi,
Fisher Drora,
Hurvitz Haggit
Publication year - 2002
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.9001
Subject(s) - tyrosinemia , biology , genetics , mutation , gene , tyrosine , biochemistry
Thirteen Israeli patients with type I tyrosinemia were studied. To the best of our knowledge, this group represents all of the patients that were diagnosed in Israel during the years 1987‐1997. Their age of onset was variable but all the patients suffered from liver disease at presentation. Six died at 3 to 36 months of age, whereas the remaining 7, in whom NTBC was started at 5 to 30 months, are alive and well at 4 to 11 years. Three mutations were identified: a mis‐splicing IVS8‐1G>C mutation in a large Moslem kindred, Pro261Leu mutation in all Jewish patients, and the IVS12+5G>A mutation, commonly found in French Canadian patients. © 2001 Wiley‐Liss, Inc.