Wilson's disease in two consecutive generations: The detection of three mutated alleles in the ATP7B gene in two Sardinian families

Digestive and Liver Disease

Volumn 45, Issue 4, 2013, Pages 342-345

  Loudianos, Georgios ^a   Zappu, Antonietta ^b   Lepori, Maria Barbara ^b   Incollu, Simona ^b   Dessì, Valentina ^b   Mameli, Eva ^b   Garrucciu, Giovanni ^c   De Virgiliis, Stefano ^b   Cao, Antonio ^d  

^a Osp Regionale per le Microcitemie   (Italy)

^b Dipartimento di Scienze Biomediche e Biotecnologie USC   (Italy)

^c AOU Sassari   (Italy)

^d CNR   (Italy)

Author keywords

Carrier detection; Diagnosis; Genetic testing; Two consecutive generations

Indexed keywords

WILSON DISEASE PROTEIN;

ADULT; ALLELE; ARTICLE; AUTOPSY; CASE REPORT; FAMILY; FEMALE; GENE EXPRESSION; GENE MUTATION; GENETIC SCREENING; HETEROZYGOTE DETECTION; HUMAN; MOLECULAR DIAGNOSIS; MUTATIONAL ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; SIBLING; WILSON DISEASE;

ADENOSINE TRIPHOSPHATASES; ADOLESCENT; ADULT; ALANINE TRANSAMINASE; ALLELES; ASPARTATE AMINOTRANSFERASES; CATION TRANSPORT PROTEINS; CERULOPLASMIN; COPPER; DNA MUTATIONAL ANALYSIS; FEMALE; HEPATOLENTICULAR DEGENERATION; HETEROZYGOTE DETECTION; HUMANS; ITALY; MIDDLE AGED; MUTATION;

EID: 84875237684     PISSN: 15908658     EISSN: 18783562     Source Type: Journal    
DOI: 10.1016/j.dld.2012.10.017     Document Type: Article

References (10)

1. Ala A.P., Walker A.P., Ashkan K., et al. Wilson disease. Lancet 2007, 369:397-408.
2. Zappu A., Magli O., Loudianos G., et al. High incidence and allelic homogeneity of Wilson disease in two isolated populations. A prerequisite for efficient disease prevention programs. JPGN 2008, 47:334-338.
3. Nicastro E., Ranucci G., Vajro P., et al. Re-evaluation of the diagnostic criteria for Wilson disease in children with mild liver disease. Hepatology 2010, 52:1948-1956.
4. Ferenci P., Caca K., Loudianos G., et al. Diagnosis and phenotypic classification of Wilson disease. Liver International 2003, 23:139-142.
5. Caprai S., Loudianos G., Massei F., et al. Direct diagnosis of Wilson disease by molecular genetics. Journal of Pediatrics 2006, 148:138-140.
6. Xuan A., Bookman I., Cox D.W., et al. Three atypical cases of Wilson disease: assessment of the Leipzig scoring system in making a diagnosis. Journal of Hepatology 2007, 47:428-433.
7. Lepori M.B., Lovicu M., Dessì V., et al. Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin. Genetic Testing 2007, 11:328-332.
8. Akil M., Brewer G.J. Psychiatric and behavioral abnormalities in Wilson's disease. Advances in Neurology 1995, 65:171-178.
9. Oder W., Grimm G., Kollegger H., et al. Neurological and neuropsychiatric spectrum of Wilson's disease: a prospective study of 45 cases. Journal of Neurology 1991, 238:281-287.
10. Dening T.R., Berrios G.F. Wilson's disease. Psychiatric symptoms in 195 cases. Archives of General Psychiatry 1989, 46:1126-1134.