ATP7A-related copper transport disorders: A systematic review and definition of the clinical subtypes.
ATP7A
ATPase
Menkes disease
X-linked
copper metabolism
genotype-phenotype
neurodegenerative disorder
occipital horn syndrome
Journal
Journal of inherited metabolic disease
ISSN: 1573-2665
Titre abrégé: J Inherit Metab Dis
Pays: United States
ID NLM: 7910918
Informations de publication
Date de publication:
03 2023
03 2023
Historique:
revised:
11
01
2023
received:
28
11
2022
accepted:
18
01
2023
pubmed:
25
1
2023
medline:
15
3
2023
entrez:
24
1
2023
Statut:
ppublish
Résumé
In patients with ATP7A-related disorders, counseling is challenging due to clinical overlap between the entities, the absence of predictive biomarkers and a clear genotype-phenotype correlation. We performed a systematic literature review by querying the MEDLINE and Embase databases identifying 143 relevant papers. We recorded data on the phenotype and genotype in 162 individuals with a molecularly confirmed ATP7A-related disorder in order to identify differentiating clinical criteria, evaluate genotype-phenotype correlations and propose management guidelines. Early seizures are specific for classical Menkes disease (CMD), that is characterized by early-onset neurodegenerative disease with high mortality rates. Ataxia is an independent indicator for atypical Menkes disease, that shows better survival rates than CMD. Bony exostoses, radial head dislocations, herniations and dental abnormalities are specific for occipital horn syndrome (OHS) that may further present with developmental delay and connective tissue manifestations. Intracranial tortuosity and bladder diverticula, both with high risk of complications, are common among all subtypes. Low ceruloplasmin is a more sensitive and discriminating biomarker for ATP7A-related disorders than serum copper. Truncating mutations are frequently associated with CMD, in contrast with splice site and intronic mutations which are more prevalent in OHS.
Substances chimiques
Copper
789U1901C5
Copper-Transporting ATPases
EC 7.2.2.8
ATP7A protein, human
EC 7.2.2.8
ATP7A protein, human (2-79)
0
Peptide Fragments
0
Types de publication
Systematic Review
Journal Article
Review
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
163-173Commentaires et corrections
Type : CommentIn
Informations de copyright
© 2023 SSIEM.
Références
Kaler SG. ATP7A-related copper transport diseases-emerging concepts and future trends. Nat Rev Neurol. 2011;7(1):15-29. doi:10.1038/nrneurol.2010.180
Tümer Z, Horn N. Menkes disease: recent advances and new aspects. J Med Genet. 1997;34(4):265-274. doi:10.1136/jmg.34.4.265
Tümer Z, Møller LB. Menkes disease. Eur J Hum Genet. 2010;18(5):511-518. doi:10.1038/ejhg.2009.187
Proud VK, Mussell HG, Kaler SG, Young DW, Percy AK. Distinctive Menkes disease variant with occipital horns: delineation of natural history and clinical phenotype. Am J Med Genet. 1996;65(1):44-51. doi:10.1002/(SICI)1096-8628(19961002)65:1<44::AID-AJMG7>3.0.CO;2-Y
Gualandi F, Sette E, Fortunato F, et al. Report of a novel ATP7A mutation causing distal motor neuropathy. Neuromuscul Disord. 2019;29(10):776-785. doi:10.1016/j.nmd.2019.08.008
Fradin M, Lavillaureix A, Jaillard S, et al. ATP7A mutation with occipital horns and distal motor neuropathy: a continuum. Eur J Med Genet. 2020;63(12):104087. doi:10.1016/j.ejmg.2020.104087
Dierick HA, Ambrosini L, Spencer J, Glover TW, Mercer JF. Molecular structure of the Menkes disease gene (ATP7A). Genomics. 1995;28(3):462-469. doi:10.1006/geno.1995.1175
Tümer Z, Vural B, Tønnesen T, Chelly J, Monaco A, Horn N. Characterization of the exon structure of the Menkes disease gene using vectorette PCR. Genomics. 1995;26(3):437-442. doi:10.1016/0888-7543(95)80160-n
Shoubridge EA. Cytochrome c oxidase deficiency. Am J Med Genet. 2001;106(1):46-52. doi:10.1002/ajmg.1378
Kodama H, Okabe I, Yanagisawa M, Kodama Y. Copper deficiency in the mitochondria of cultured skin fibroblasts from patients with Menkes syndrome. J Inherit Metab Dis. 1989;12(4):386-389. doi:10.1007/BF01802032
Petris MJ, Strausak D, Mercer JF. The Menkes copper transporter is required for the activation of tyrosinase. Hum Mol Genet. 2000;9(19):2845-2851. doi:10.1093/hmg/9.19.2845
Michel H, Behr J, Harrenga A, Kannt A. Cytochrome c oxidase: structure and spectroscopy. Annu Rev Biophys Biomol Struct. 1998;27(1):329-356. doi:10.1146/annurev.biophys.27.1.329
Kaler SG, Goldstein DS, Holmes C, Salerno JA, Gahl WA. Plasma and cerebrospinal fluid neurochemical pattern in Menkes disease. Ann Neurol. 1993;33(2):171-175. doi:10.1002/ana.410330206
La Fontaine S, Mercer JF. Trafficking of the copper-ATPases, ATP7A and ATP7B: role in copper homeostasis. Arch Biochem Biophys. 2007;463(2):149-167. doi:10.1016/j.abb.2007.04.021
Polishchuk R, Lutsenko S. Golgi in copper homeostasis: a view from the membrane trafficking field. Histochem Cell Biol. 2013;140(3):285-295. doi:10.1007/s00418-013-1123-8
Voskoboinik I, Camakaris J. Menkes copper-translocating P-type ATPase (ATP7A): biochemical and cell biology properties, and role in Menkes disease. J Bioenerg Biomembr. 2002;34(5):363-371. doi:10.1023/a:1021250003104
Gourdon P, Sitsel O, Karlsen JL, Møller LB, Nissen P. Structural models of the human copper P-type ATPases ATP7A and ATP7B. Biol Chem. 2012;393(4):205-216. doi:10.1515/hsz-2011-0249
Kaler SG. Metabolic and molecular bases of Menkes disease and occipital horn syndrome. Pediatr Dev Pathol. 1998;1(1):85-98. doi:10.1007/s100249900011
Das S, Levinson B, Whitney S, Vulpe C, Packman S, Gitschier J. Diverse mutations in patients with Menkes disease often lead to exon skipping. Am J Hum Genet. 1994;55(5):883-889.
Kaler SG, Gallo LK, Proud VK, et al. Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus. Nat Genet. 1994;8(2):195-202. doi:10.1038/ng1094-195
Das S, Levinson B, Vulpe C, Whitney S, Gitschier J, Packman S. Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse. Am J Hum Genet. 1995;56(3):570-576.
Tümer Z. An overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndrome. Hum Mutat. 2013;34(3):417-429. doi:10.1002/humu.22266
Moller LB, Mogensen M, Horn N. Molecular diagnosis of Menkes disease: genotype-phenotype correlation. Biochimie. 2009;91(10):1273-1277. doi:10.1016/j.biochi.2009.05.011
Kaler SG. Translational research investigations on ATP7A, an important human copper ATPase. Ann N Y Acad Sci. 2014;131464:64-68. doi:10.1111/nyas.12422
Henkin RI, Schulman JD, Schulman CB, Bronzert DA. Changes in total, nondiffusible, and diffusibleplasma zinc and copper during infancy. J Pediatr. 1973;82(5):831-837. doi:10.1016/s0022-3476(73)80076-9
Moola SMZ, Tufanaru C, Aromataris E, et al. Chapter 7: systematic reviews of etiology and risk. In: Aromataris E, Munn Z, eds. JBI Manual for Evidence Synthesis. JBI; 2020. doi:10.46658/JBIMES-20-08
Kaler SG, DiStasio AT. ATP7A-related copper transport disorders. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews. University of Washington; 2021.
Manara R, Rocco MC, D'Agata L, et al. Neuroimaging changes in Menkes disease, Part 2. AJNR Am J Neuroradiol. 2017;38(10):1858-1865. doi:10.3174/ajnr.A5192
Nassogne MC, Sharrard M, Hertz-Pannier L, et al. Massive subdural haematomas in Menkes disease mimicking shaken baby syndrome. Childs Nerv Syst. 2002;18(12):729-731. doi:10.1007/s00381-002-0630-z
Sartoris DJ, Luzzatti L, Weaver DD, Macfarlane JD, Hollister DW, Parker BR. Type IX Ehlers-Danlos syndrome. A new variant with pathognomonic radiographic features. Radiology. 1984;152(3):665-670. doi:10.1148/radiology.152.3.6463246
Yasmeen S, Lund K, De Paepe A, et al. Occipital horn syndrome and classical Menkes syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon. Eur J Hum Genet. 2014;22(4):517-521. doi:10.1038/ejhg.2013.191
Skjorringe T, Pedersen PA, Thorborg SS, Nissen P, Gourdon P, Moller LB. Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease. Sci Rep. 2017;7:757. doi:10.1016/j.ceb.2019.02.009
Møller LB. Small amounts of functional ATP7A protein permit mild phenotype. J Trace Elem Med Biol. 2015;31:173-177. doi:10.1016/j.jtemb.2014.07.022
Møller LB, Tümer Z, Lund C, et al. Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndrome. Am J Hum Genet. 2000;66(4):1211-1220. doi:10.1086/302857
Yoganathan S, Sudhakar SV, Arunachal G, et al. Menkes disease and response to copper histidine: an Indian case series. Ann Indian Acad Neurol. 2017;20(1):62-68. doi:10.4103/0972-2327.199907
Tang J, Robertson S, Lem KE, Godwin SC, Kaler SG. Functional copper transport explains neurologic sparing in occipital horn syndrome. Genet Med. 2006;8(11):711-718. doi:10.1097/01.gim.0000245578.94312.1e
Isselbacher EM, Preventza O, Hamilton Black IIIJ, et al. 2022 ACC/AHA guideline for the diagnosis and management of aortic disease: a report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines. J Am Coll Cardiol. 2022;80(24):e223-e393.
Beyens A, Albuisson J, Boel A, et al. Arterial tortuosity syndrome: 40 new families and literature review. Genet Med. 2018;20(10):1236-1245.