Literature DB >> 22941676

Genetics of Wilson's disease: a clinical perspective.

S Suresh Kumar1, George Kurian, C E Eapen, Eve A Roberts.   

Abstract

Hepatic Wilson's disease is often a difficult diagnosis to confirm. This review examines the current role of genetic tests for Wilson's disease and is aimed at clinicians caring for patients with this disease. We discuss how genetic testing is carried out for Wilson's disease, indications for these tests, and genetic counseling for the family. In contrast to the advances in diagnosis of Wilson's disease by testing for ATP7B mutations, genotype-phenotype correlations are not yet sufficiently established. The non-Wilsonian copper overload syndromes causing cirrhosis in children are another important area for study. The review also identifies further areas for research into the genetics of Wilson's disease in India.

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Year:  2012        PMID： 22941676     DOI： 10.1007/s12664-012-0237-6

Source DB:  PubMed          Journal:  Indian J Gastroenterol        ISSN： 0254-8860


  68 in total

1.  Trends in consanguinity in South India.

Authors:  S Krishnamoorthy; N Audinarayana
Journal:  J Biosoc Sci       Date:  2001-04

2.  Prenatal diagnosis of Wilson's disease by analysis of DNA polymorphism.

Authors:  P Cossu; M Pirastu; A Nucaro; A Figus; A Balestrieri; C Borrone; R Giacchino; M Devoto; G Monni; A Cao
Journal:  N Engl J Med       Date:  1992-07-02       Impact factor: 91.245

3.  Indian childhood-like cirrhosis in three Saudi Arabian siblings.

Authors:  P O Abiodun; A A Albarki; M Dewan; S H Annobil
Journal:  Ann Trop Paediatr       Date:  2000-03

4.  Wilson disease in septuagenarian siblings: Raising the bar for diagnosis.

Authors:  Aftab Ala; Jimo Borjigin; Arnold Rochwarger; Michael Schilsky
Journal:  Hepatology       Date:  2005-03       Impact factor: 17.425

5.  Localization of the Wilson's disease protein in human liver.

Authors:  M Schaefer; H Roelofsen; H Wolters; W J Hofmann; M Müller; F Kuipers; W Stremmel; R J Vonk
Journal:  Gastroenterology       Date:  1999-12       Impact factor: 22.682

6.  R778L, H1069Q, and I1102T mutation study in neurologic Wilson disease.

Authors:  Jayantee Kalita; Bindu I Somarajan; Usha K Misra; Balraj Mittal
Journal:  Neurol India       Date:  2010 Jul-Aug       Impact factor: 2.117

7.  Screening for mutations in ATP7B gene using conformation-sensitive gel electrophoresis in a family with Wilson's disease.

Authors:  Santhosh Sundaresan; Chundamannil Eapen Eapen; Ramachandran Velayutham Shaji; Mammen Chandy; George Kurian; George Chandy
Journal:  Med Sci Monit       Date:  2007-03

8.  [Haplotype analysis and possible founder effect at the R778L mutation of the ATP7B gene in Korean patients with Wilson's disease].

Authors:  Sun Hwan Bae; Jong Won Kim; Jeong Kee Seo
Journal:  Korean J Hepatol       Date:  2009-09

9.  Etiological spectrum of esophageal varices due to portal hypertension in Indian children: is it different from the West?

Authors:  Ujjal Poddar; Babu Ram Thapa; K L Narsimha Rao; Kartar Singh
Journal:  J Gastroenterol Hepatol       Date:  2007-08-06       Impact factor: 4.029

Review 10.  Wilson disease and idiopathic copper toxicosis.

Authors:  I H Scheinberg; I Sternlieb
Journal:  Am J Clin Nutr       Date:  1996-05       Impact factor: 7.045
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  3 in total

1.  Multiplex PCR-based Sequencing of ATP7B Gene in Wilson's Disease - A Preliminary Study.

Authors:  Rekha Aaron; Aaron Chapla; Sumita Danda; Uday Zachariah; Chundamannil E Eapen; Ashish Goel
Journal:  J Clin Exp Hepatol       Date:  2021-08-06

Review 2.  The genetics of Wilson disease.

Authors:  Irene J Chang; Si Houn Hahn
Journal:  Handb Clin Neurol       Date:  2017

3.  Copper phenotype in Alzheimer's disease: dissecting the pathway.

Authors:  Rosanna Squitti; Renato Polimanti
Journal:  Am J Neurodegener Dis       Date:  2013-06-21
  3 in total

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