Pathogenicity of Intronic and Synonymous Variants of ATP7B in Wilson Disease

Petrukhin, 1994, Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions, Hum Mol Genet, 3, 1647, 10.1093/hmg/3.9.1647 Członkowska, 2018, Wilson disease, Nat Rev Dis Primers, 4, 21, 10.1038/s41572-018-0018-3 Xie, 2017, Wilson’s disease in China, Neurosci Bull, 33, 323, 10.1007/s12264-017-0107-4 2021, Chinese clinical practice guidelines for Wilson′s disease 2021, Chin J Neurol, 54, 310 Wang, 2018, Presumed missense and synonymous mutations in ATP7B gene cause exon skipping in Wilson disease, Liver Int, 38, 1504, 10.1111/liv.13754 Merico, 2020, ATP7B variant c.1934T > G p.Met645Arg causes Wilson disease by promoting exon 6 skipping, NPJ Genom Med, 5, 16, 10.1038/s41525-020-0123-6 Ule, 2019, Alternative splicing regulatory networks: functions, mechanisms, and evolution, Mol Cell, 76, 329, 10.1016/j.molcel.2019.09.017 Squitti, 2014, In silico investigation of the ATP7B gene: insights from functional prediction of non-synonymous substitution to protein structure, Biometals, 27, 53, 10.1007/s10534-013-9686-3 Dong, 2016, Spectrum and classification of ATP7B variants in a large cohort of Chinese patients with Wilson’s disease guides genetic diagnosis, Theranostics, 6, 638, 10.7150/thno.14596 Chen, 2019, Contribution of intragenic deletions to mutation spectrum in Chinese patients with Wilson’s disease and possible mechanism underlying ATP7B gross deletions, Parkinsonism Relat Disord, 62, 128, 10.1016/j.parkreldis.2019.01.001 Desviat, 2012, Minigenes to confirm exon skipping mutations, Methods Mol Biol, 867, 37, 10.1007/978-1-61779-767-5_3 Członkowska, 2007, Unified Wilson’s Disease Rating Scale - a proposal for the neurological scoring of Wilson’s disease patients, Neurol Neurochir Pol, 41, 1 Richards, 2015, Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology, Genet Med, 17, 405, 10.1038/gim.2015.30 Zhang, 2019, Deep-learning augmented RNA-seq analysis of transcript splicing, Nat Methods, 16, 307, 10.1038/s41592-019-0351-9 Dong, 2021, Role for biochemical assays and Kayser-Fleischer rings in diagnosis of Wilson’s disease, Clin Gastroenterol Hepatol, 19, 590, 10.1016/j.cgh.2020.05.044 Riolo, 2021, What’s wrong in a jump? prediction and validation of splice site variants, Methods Protoc, 4, 62, 10.3390/mps4030062 Shaikh, 2018, Before progressing from “exomes” to “genomes”… don’t forget splicing variants, Eur J Hum Genet, 26, 1559, 10.1038/s41431-018-0214-3 Lord, 2019, Deciphering Developmental Disorders study. Pathogenicity and selective constraint on variation near splice sites, Genome Res, 29, 159, 10.1101/gr.238444.118 Chen, 2018, An MTF1 binding site disrupted by a homozygous variant in the promoter of ATP7B likely causes Wilson disease, Eur J Hum Genet, 26, 1810, 10.1038/s41431-018-0221-4 Mameli, 2015, Wilson’s disease caused by alternative splicing and Alu exonization due to a homozygous 3039-bp deletion spanning from intron 1 to exon 2 of the ATP7B gene, Gene, 569, 276, 10.1016/j.gene.2015.05.067 Jung, 2021, Comprehensive characterisation of intronic mis-splicing mutations in human cancers, Oncogene, 40, 1347, 10.1038/s41388-020-01614-3 Wang, 2021, mRNA analysis identifies deep intronic variants causing Alport syndrome and overcomes the problem of negative results of exome sequencing, Sci Rep, 11, 18097, 10.1038/s41598-021-97414-0 Anna, 2018, Splicing mutations in human genetic disorders: examples, detection, and confirmation, J Appl Genet, 59, 253, 10.1007/s13353-018-0444-7 Zeng, 2021, Decoding the effects of synonymous variants, Nucleic Acids Res, 49, 12673, 10.1093/nar/gkab1159 Frisso, 2016, Functional studies and in silico analyses to evaluate non-coding variants in inherited cardiomyopathies, Int J Mol Sci, 17, E1883, 10.3390/ijms17111883 Panzer, 2022, Synonymous mutation in adenosine triphosphatase copper-transporting beta causes enhanced exon skipping in Wilson disease, Hepatol Commun, 6, 1611, 10.1002/hep4.1922 Shimo, 2018, Designing effective antisense oligonucleotides for exon skipping, Methods Mol Biol, 1687, 143, 10.1007/978-1-4939-7374-3_10