A missense mutation (Q279R) in the Fumarylacetoacetate Hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation

A missense mutation (Q279R) in the Fumarylacetoacetate Hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation

<p>Abstract</p> <p>Background</p> <p>Tyrosinemia type I, the most severe disease of the tyrosine catabolic pathway is caused by a deficiency in fumarylacetoacetate hydrolase (FAH). A patient showing few of the symptoms associated with the disease, was found to be a comp...

Full description

Bibliographic Details
Main Authors:	Baklouti Faouzi, Levy Harvey L, Bergeron Anne, Poudrier Jacques A, Dreumont Natacha, Tanguay Robert M
Format:	Article
Language:	English
Published:	BMC 2001-06-01
Series:	BMC Genetics
Online Access:	http://www.biomedcentral.com/1471-2156/2/9

Similar Items

Identification and functional characterization of a novel homozygous intronic variant in the fumarylacetoacetate hydrolase gene in a Chinese patient with tyrosinemia type 1
by: Jiao Chen, et al.
Published: (2022-12-01)

Therapeutic Targeting of Fumaryl Acetoacetate Hydrolase in Hereditary Tyrosinemia Type I
by: Jon Gil-Martínez, et al.
Published: (2021-02-01)

Inhibitors of Fumarylacetoacetate Hydrolase Domain Containing Protein 1 (FAHD1)
by: Alexander K. H. Weiss, et al.
Published: (2021-08-01)

Phenylalanine suppresses cell death caused by loss of fumarylacetoacetate hydrolase in Arabidopsis
by: Yihe Jiang, et al.
Published: (2022-08-01)

Syndrome of hereditary tyrosinemia in mink
by: Sørensen H, et al.
Published: (1978-10-01)

Fumarylacetoacetate hydrolase deficient pigs are a novel large animal model of metabolic liver disease
by: Raymond D. Hickey, et al.
Published: (2014-07-01)

Hereditary tyrosinemia type 1 in children
by: G. V. Volynets, et al.
Published: (2019-11-01)

Cell death resulted from loss of fumarylacetoacetate hydrolase in Arabidopsis is related to phytohormone jasmonate but not salicylic acid
by: Zhou Zhou, et al.
Published: (2020-08-01)

Heat Shock Response Associated with Hepatocarcinogenesis in a Murine Model of Hereditary Tyrosinemia Type I
by: Francesca Angileri, et al.
Published: (2014-04-01)

Mutational spectrum of Mexican patients with tyrosinemia type 1: In silico modeling and predicted pathogenic effect of a novel missense FAH variant
by: Isabel Ibarra‐González, et al.
Published: (2019-12-01)

Protein Degradation and the Pathologic Basis of Phenylketonuria and Hereditary Tyrosinemia
by: Neha Sarodaya, et al.
Published: (2020-07-01)

Clinical Features of 29 Patients with Hereditary Tyrosinemia I in Western Turkey
by: Havva Yazıcı, et al.
Published: (2018-03-01)

The mutation spectrum and ethnic distribution of non-hepatorenal tyrosinemia (types II, III)
by: Zahra Beyzaei, et al.
Published: (2022-12-01)

A missense mutation potentially involved in the pathogenesis of hereditary hemorrhagic telangiectasia: a case report
by: Le Ma, et al.
Published: (2023-03-01)

A novel missense mutation in the GNE gene in an Iranian patient with hereditary inclusion body myopathy
by: Mahdiyeh Behnam, et al.
Published: (2014-01-01)

Clinical utility of nitisinone for the treatment of hereditary tyrosinemia type-1 (HT-1)
by: Das AM
Published: (2017-07-01)

Detection and Functional Verification of Noncanonical Splice Site Mutations in Hereditary Deafness
by: Penghui Chen, et al.
Published: (2021-12-01)

Generation of immunodeficient pig with hereditary tyrosinemia type 1 and their preliminary application for humanized liver
by: Jilong Ren, et al.
Published: (2022-03-01)

Design of Polymerase Chain Reaction Initiators and Their Function to Identify FAH Mutations in Type I Tyrosinemia
by: A Keshtkari, et al.
Published: (2019-11-01)

Characterization of a Missense Mutation in the Catalytic Domain and a Splicing Mutation of Coagulation Factor X Compound Heterozygous in a Chinese Pedigree
by: Yuanzheng Feng, et al.
Published: (2021-09-01)

The compound heterozygous mutations of c.607G>a and c.657delC in the FAH gene are associated with renal damage with hereditary tyrosinemia type 1 (HT1)
by: Huan Chi, et al.
Published: (2023-01-01)

Mutational and splicing landscape in a cohort of 43,000 patients tested for hereditary cancer
by: Carolyn Horton, et al.
Published: (2022-08-01)

Analysis of 30 putative BRCA1 splicing mutations in hereditary breast and ovarian cancer families identifies exonic splice site mutations that escape in silico prediction.
by: Barbara Wappenschmidt, et al.
Published: (2012-01-01)

A synonymous RET substitution enhances the oncogenic effect of an in-cis missense mutation by increasing constitutive splicing efficiency.
by: Valeria Pecce, et al.
Published: (2018-10-01)

A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report
by: Kvittingen Eli-Anne, et al.
Published: (2009-12-01)

Packpred: predicting the functional effect of missense mutations
by: Tan, Kuan Pern, et al.
Published: (2022)

In silico and in vivo splicing analysis of <it>MLH1 </it>and <it>MSH2 </it>missense mutations shows exon- and tissue-specific effects
by: Guanti Ginevra, et al.
Published: (2006-09-01)

Tirosinemia neonatal Neonatal tyrosinemia
by: Rafael J. Manotas Cabarcas, et al.
Published: (1995-04-01)

Hereditary Tyrosinemia Type 1—A Rare Disease with Typical Radiological Features: Case Report and Review of Literature
by: Somesh Singh, et al.
Published: (2020-05-01)

Connexin Mutations and Hereditary Diseases
by: Yue Qiu, et al.
Published: (2022-04-01)

A novel EXT1 splice site mutation in a kindred with hereditary multiple exostosis and osteoporosis.
by: Lemos, M, et al.
Published: (2005)

A 46,XY female DSD patient with bilateral gonadoblastoma, a novel SRY missense mutation combined with a WT1 KTS splice-site mutation.
by: Remko Hersmus, et al.
Published: (2012-01-01)

Novel Functional Properties of Missense Mutations in the Glycine Receptor β Subunit in Startle Disease
by: Inken Piro, et al.
Published: (2021-09-01)

Variable phenotypes are associated with PMP22 missense mutations.
by: Russo, M, et al.
Published: (2011)

Clinical characteristics of subjects with a missense mutation in glucokinase.
by: Page, R, et al.
Published: (1995)

Editorial: Structural understanding of the functional consequences of missense mutation
by: Jian Tian, et al.
Published: (2023-11-01)

Another Novel Missense Mutation in ARSB Gene in Iran
by: Samaneh Abbasi, et al.
Published: (2017-10-01)

AHDC1 missense mutations in Xia-Gibbs syndrome
by: Michael M. Khayat, et al.
Published: (2021-10-01)

Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts.
by: Xiaodong Jiao, et al.
Published: (2015-01-01)

Multiple Property Tolerance Analysis for the Evaluation of Missense Mutations
by: Tai-Sung Lee, et al.
Published: (2006-01-01)