Pathogenic compound heterozygous ATP7B mutations with hypoceruloplasminaemia without clinical features of Wilson's disease

Walter O Arruda; Renato P Munhoz; Ricardo S de Bem; Marta M Deguti; Egberto Reis Barbosa; Jorge A Zavala; Hélio A G Teive

doi:10.1016/j.jocn.2013.02.030

Pathogenic compound heterozygous ATP7B mutations with hypoceruloplasminaemia without clinical features of Wilson's disease

J Clin Neurosci. 2014 Feb;21(2):335-6. doi: 10.1016/j.jocn.2013.02.030. Epub 2013 Aug 17.

Authors

Walter O Arruda¹, Renato P Munhoz¹, Ricardo S de Bem², Marta M Deguti³, Egberto Reis Barbosa⁴, Jorge A Zavala⁵, Hélio A G Teive⁶

Affiliations

¹ Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Clínicas, Federal University of Paraná, Rua General Carneiro 1103/102, Centro, Curitiba, PR 80060-150, Brazil.
² Gastroenterology and Hepatology Service, Internal Medicine Department, Federal University of Paraná, Curitiba, Brazil.
³ Department of Hepatology and Gastroenterology, University of São Paulo School of Medicine, São Paulo, Brazil.
⁴ Department of Neurology, University of São Paulo School of Medicine, São Paulo, Brazil.
⁵ Department of Neurosciences, Alfred Hospital, Melbourne, VIC, Australia.
⁶ Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Clínicas, Federal University of Paraná, Rua General Carneiro 1103/102, Centro, Curitiba, PR 80060-150, Brazil. Electronic address: hagteive@mps.com.br.

PMID: 23962630
DOI: 10.1016/j.jocn.2013.02.030

Abstract

The authors report a 44-year-old man with a history of attention deficit and hyperactivity disorder, obsessive compulsive behaviour, vocal tics, depression, and anxiety, in whom a compound heterozygous ATP7B mutation was found, associated with hypoceruloplasminemia, but without clinical or pathological manifestation of Wilson's disease (WD). Genetic testing revealed a compound heterozygous ATP7B mutation already described in WD, p.Met645Arg (C1934TG/c.51+4A→T). Hypoceruloplasminaemia was detected but no clinical manifestations (hepatic or central nervous system) of WD were present. The authors conclude that patients can carry a heterozygous mutation of the ATP7B gene that is associated with hypoceruloplasminaemia and display no overt clinical hepatic and/or central nervous system manifestations of WD.

Keywords: ATP7B; Hypoceruloplasminaemia; Wilson’s disease.

Publication types

Case Reports

MeSH terms

Adenosine Triphosphatases / genetics*
Adult
Cation Transport Proteins / genetics*
Ceruloplasmin / deficiency*
Ceruloplasmin / genetics
Copper-Transporting ATPases
DNA Mutational Analysis
Diagnosis, Differential
Follow-Up Studies
Hepatolenticular Degeneration / genetics
Humans
Iron Metabolism Disorders / complications
Iron Metabolism Disorders / diagnosis
Iron Metabolism Disorders / genetics*
Male
Mental Disorders / complications
Mental Disorders / drug therapy
Mental Disorders / genetics
Mutation*
Mutation, Missense
Neurodegenerative Diseases / complications
Neurodegenerative Diseases / diagnosis
Neurodegenerative Diseases / genetics*

Substances

Cation Transport Proteins
Ceruloplasmin
Adenosine Triphosphatases
ATP7B protein, human
Copper-Transporting ATPases

Supplementary concepts

Familial apoceruloplasmin deficiency