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Twenty-five novel mutations including duplications in the ATP7A gene.

Authors: Moizard, MP  Ronce, N  Blesson, S  Bieth, E  Burglen, L  Mignot, C  Mortemousque, I  Marmin, N  Dessay, B  Danesino, C  Feillet, F  Castelnau, P  Toutain, A  Moraine, C  Raynaud, M 
Citation: Moizard MP, etal., Clin Genet. 2011 Mar;79(3):243-53. doi: 10.1111/j.1399-0004.2010.01461.x.
Pubmed: (View Article at PubMed) PMID:21208200
DOI: Full-text: DOI:10.1111/j.1399-0004.2010.01461.x

Twenty-five novel mutations including duplications in the ATP7A gene. Menkes disease (MD) and occipital horn syndrome (OHS) are allelic X-linked recessive copper deficiency disorders resulting from ATP7A gene mutations. MD is a severe condition leading to progressive neurological degeneration and death in early childhood, whereas OHS has a milder phenotype with mainly connective tissue abnormalities. Until now, molecular analyses have revealed only deletions and point mutations in both diseases. This study reports new molecular data in a series of 40 patients referred for either MD or OHS. We describe 23 point mutations (9 missense mutations, 7 splice site variants, 4 nonsense mutations, and 3 small insertions or deletions) and 7 intragenic deletions. Of these, 18 point mutations and 3 deletions are novel. Furthermore, our finding of four whole exon duplications enlarges the mutation spectrum in the ATP7A gene. ATP7A alterations were found in 85% of cases. Of these alterations, two thirds were point mutations and the remaining one third consisted of large rearrangements. We found that 66.6% of point mutations resulted in impaired ATP7A transcript splicing, a phenomenon more frequent than expected. This finding enabled us to confirm the pathogenic role of ATP7A mutations, particularly in missense and splice site variants.


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RGD Object Information
RGD ID: 11252186
Created: 2016-06-28
Species: All species
Last Modified: 2016-06-28
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.