Characterization of mutation spectrum and identification of novel mutations in ATP7B gene from a cohort of Wilson disease patients: Functional and therapeutic implications

2018 ◽  
Vol 39 (12) ◽  
pp. 1926-1941 ◽  
Author(s):  
Niti Kumari ◽  
Aman Kumar ◽  
Babu Ram Thapa ◽  
Manish Modi ◽  
Arnab Pal ◽  
...  
Keyword(s):  
Wilson Disease ◽  
Mutation Spectrum ◽  
Atp7b Gene ◽  
Novel Mutations ◽  
Therapeutic Implications

scholarly journals Mutational analysis of ATP7B gene in Egyptian children with Wilson disease: 12 novel mutations

2008 ◽  
Vol 53 (8) ◽  
pp. 681-687 ◽  
Author(s):  
Tawhida Y. Abdelghaffar ◽  
Solaf M. Elsayed ◽  
Ezzat Elsobky ◽  
Bettina Bochow ◽  
Janine Büttner ◽  
...  
Keyword(s):  
Wilson Disease ◽  
Mutational Analysis ◽  
Atp7b Gene ◽  
Novel Mutations ◽  
Egyptian Children

Characterization of the Molecular Defect in the ATP7B Gene in Wilson Disease Patients from Yugoslavia

2003 ◽  
Vol 7 (2) ◽  
pp. 107-112 ◽  
Author(s):  
Georgios Loudianos ◽  
Vladimir Kostic ◽  
Paola Solinas ◽  
Mario Lovicu ◽  
Valeria Dessì ◽  
...  
Keyword(s):  
Wilson Disease ◽  
Molecular Defect ◽  
Atp7b Gene

Abstract 3765: APC and MUTYH mutation spectrum in Brazil: First genotype characterization of brazilian FAP and AFAP patients identifies 6 novel mutations

2011 ◽  
Author(s):  
Giovana T. Torrezan ◽  
Felipe Cavalcanti Carneiro da Silva ◽  
Israel Gomy ◽  
Erika Maria Monteiro Santos ◽  
Benedito Mauro Rossi ◽  
...  
Keyword(s):  
Mutation Spectrum ◽  
Novel Mutations ◽  
Mutyh Mutation

DNA and RNA studies for molecular characterization of a gross deletion detected in homozygosity in the NH2-terminal region of the ATP7B gene in a Wilson disease patient

2011 ◽  
Vol 25 (5-6) ◽  
pp. 195-198 ◽  
Author(s):  
Simona Incollu ◽  
Maria Barbara Lepori ◽  
Antonietta Zappu ◽  
Valentina Dessì ◽  
Maria Cristina Noli ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Wilson Disease ◽  
Disease Patient ◽  
Terminal Region ◽  
Atp7b Gene ◽  
Dna And Rna

Late neurological presentations of Wilson disease patients in French population and identification of 8 novel mutations in the ATP7B gene

2007 ◽  
Vol 21 (1) ◽  
pp. 37-42 ◽  
Author(s):  
Philippe Chappuis ◽  
Jacques Callebert ◽  
Valérie Quignon ◽  
France Woimant ◽  
Jean-Louis Laplanche
Keyword(s):  
Wilson Disease ◽  
Atp7b Gene ◽  
French Population ◽  
Novel Mutations

scholarly journals Mutations of ATP7B gene in two Thai siblings with Wilson disease

2010 ◽  
Vol 4 (1) ◽  
pp. 163-169 ◽  
Author(s):  
Suporn Treepongkaruna ◽  
Paneeya Pienvichit ◽  
Pornpimon Phuapradit ◽  
Porawee Kodcharin ◽  
Duangrurdee Wattanasirichaigoon
Keyword(s):  
Mutation Analysis ◽  
Wilson Disease ◽  
Stop Codon ◽  
Premature Stop Codon ◽  
Copper Metabolism ◽  
Autosomal Recessive Disorder ◽  
Rapid Screening ◽  
Base Substitution ◽  
Atp7b Gene ◽  
Novel Mutations

Abstract Background: Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by mutations in ATP7B gene. Objective: Report the clinical data and mutation analysis of two Thai siblings suspected of WD. Subject and methods: A 13-year-old boy who presented with cirrhosis, arthralgia, hypoalbuminemia, and coagulopathy, and his 11-year-old sister who was asymptomatic but had hepatomegaly with elevation of transaminases, were studied. Mutation analysis of ATP7B gene and mRNA analysis was performed in both patients and their parents. Results: Investigations were consistent with WD, and their liver diseases improved after standard treatment for WD. DNA analyses in these two patients revealed two novel mutations, which were a deletion of the first 2bp of exon 6 (c.1870_1871delGA), and a single base substitution from A to G at nucleotide 4075 (c.4075A>G) in the exon 20 (p.M1359V). PCR-restriction digestion with NcoI restriction enzyme was employed as the second method for confirmation of the c.4075A>G mutation and for rapid screening in 100 chromosomes from unrelated healthy controls, and this variant was not present in the controls. The c.1870_1871delGA deletion caused a frameshift effect, which results in a premature stop codon (p.E624fsX753), and the p.M1359V mutation is a substitution of methionine with valine, which may have effects upon its orientation and interaction with other adjacent amino acids. Conclusion: Two novel mutations of ATP7B gene were identified in two Thai siblings with WD.

scholarly journals Novel mutations of the ATP7B gene in Japanese patients with Wilson disease

2000 ◽  
Vol 45 (2) ◽  
pp. 86-91 ◽  
Author(s):  
Yoichiro Kusuda ◽  
Kazuyuki Hamaguchi ◽  
Tetsu Mori ◽  
Rie Shin ◽  
Masataka Seike ◽  
...  
Keyword(s):  
Wilson Disease ◽  
Japanese Patients ◽  
Atp7b Gene ◽  
Novel Mutations

Mutation analysis of ATP7B gene in Turkish Wilson disease patients: Identification of five novel mutations

2013 ◽  
Vol 56 (4) ◽  
pp. 175-179 ◽  
Author(s):  
Ozlenen Simsek Papur ◽  
Sezin Asik Akman ◽  
Raif Cakmur ◽  
Orhan Terzioglu
Keyword(s):  
Mutation Analysis ◽  
Wilson Disease ◽  
Atp7b Gene ◽  
Novel Mutations
Sign in / Sign up

Export Citation Format

Share Document