✦ LIBER ✦

Mutation analysis of the FAH gene in Israeli patients with tyrosinemia type I

✍ Scribed by Orly N. Elpeleg; Avraham Shaag; Elizabeth Holme; Ghaleb Zughayar; Suzi Ronen; Drora Fisher; Haggit Hurvitz

Publisher: John Wiley and Sons
Year: 2001
Tongue: English
Weight: 61 KB
Volume: 19
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.9001

No coin nor oath required. For personal study only.

✦ Synopsis

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.

📜 SIMILAR VOLUMES

Six novel mutations in the fumarylacetoa

Six novel mutations in the fumarylacetoacetate hydrolase gene of patients with hereditary tyrosinemia type I

✍ Cynthia Timmers; Markus Grompe 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 247 KB 👁 2 views

Mutations in the fumarylacetoacetate hyd

Mutations in the fumarylacetoacetate hydrolase gene causing hereditary tyrosinemia type I: Overview

✍ Maryse St-Louis; Robert M. Tanguay 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 194 KB 👁 2 views

Tyrosinemia type I is an inborn error of metabolism caused by a deficiency in the last enzyme of the tyrosine catabolic pathway, fumarylacetoacetate hydrolase (FAH). The disease has been reported worldwide with varying incidence. Recently, there has been considerable progress in identifying mutation

Mutation analysis of the MEN1 gene in Is

Mutation analysis of the MEN1 gene in Israeli patients with MEN1 and familial isolated hyperprolactinemia

✍ Orit Jakobovitz-Picard; David Olchovsky; Meir Berezin; Azizela Ghodsizade; Zvi Z 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 69 KB 👁 2 views

Multiple endocrine neoplasia type 1 (MEN-1) is characterized by hyperfunction and tumor formation of the parathyroids, anterior pituitary and endocrine pancreas. We carried out exon-specific, PCR-based DNA sequencing of the coding exons of the MEN1 gene in 8 Israeli MEN1 patients: 4 familial and 4 s

Splicing mutations, mainly IVS6-1(G>T),

Splicing mutations, mainly IVS6-1(G>T), account for 70% of fumarylacetoacetate hydrolase (FAH) gene alterations, including 7 novel mutations, in a survey of 29 tyrosinemia type I patients

✍ J.A. Arranz; F. Piñol; L. Kozak; C. Pérez-Cerdá; B. Cormand; M. Ugarte; E. Riudo 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 343 KB

Hereditary tyrosinemia type I (HTI) is an autosomal recessive disease characterized by a deficiency in fumarylacetoacetate hydrolase (FAH) activity. In this work, the FAH genotype was established in a group of 29 HTI patients, most of them from the Mediterranean area. We identified seven novel mutat

Spectrum of mutations in the fumarylacet

Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries

✍ AJIW Bergman; IET van den Berg; W Brink; BT Poll-The; JK Ploos van Amstel; R Ber 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 304 KB 👁 2 views

Hereditary tyrosinemia type 1 (HT1) is a rare metabolic disease caused by a deficient activity of the enzyme fumarylacetoacetase (FAH). To investigate the molecular heterogeneity of tyrosinemia, the geographic distribution and the genotype-phenotype relationship, we have analyzed the FAH genotype of

Mutation profile of the MYO7A gene in Sp

Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I

✍ T. Jaijo; E. Aller; S. Oltra; M. Beneyto; C. Nájera; C. Ayuso; M. Baiget; M. Car 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 178 KB

Usher syndrome type I is the most severe form of Usher syndrome. It is an autosomal recessive disorder characterized by profound congenital sensorineural deafness, retinitis pigmentosa, and vestibular abnormalities. Mutations in the myosin VIIA gene (MYO7A) are responsible for Usher syndrome type 1B