A Cross-Sectional Study of the Neuropsychiatric Phenotype of CACNA1C-Related Disorder

Pediatric Neurology - Tập 138 - Trang 101-106 - 2023
Rebecca J. Levy1,2, Katherine W. Timothy3, Jack F.G. Underwood4, Jeremy Hall4, Jonathan A. Bernstein1, Sergiu P. Pașca5,6
1Division of Medical Genetics in the Department of Pediatrics, Stanford University, Stanford, California
2Division of Child Neurology in the Department of Neurology, Stanford University, Stanford, California
3Timothy Syndrome Foundation, Elliott City, Maryland
4Neuroscience & Mental Health Innovation Institute, Cardiff University, Cardiff, Wales, UK
5Department of Psychiatry and Behavioral Sciences, Stanford University, Stanford, California
6Stanford Brain Organogenesis, Wu Tsai Neurosciences Institute and Bio-X, Stanford University, Stanford, California

Tài liệu tham khảo

Flavell, 2008, Signaling mechanisms linking neuronal activity to gene expression and plasticity of the nervous system, Annu Rev Neurosci, 31, 563, 10.1146/annurev.neuro.31.060407.125631 Greer, 2008, From synapse to nucleus: calcium-dependent gene transcription in the control of synapse development and function, Neuron, 59, 846, 10.1016/j.neuron.2008.09.002 2013, Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis, Lancet, 381, 1371, 10.1016/S0140-6736(12)62129-1 Green, 2010, The bipolar disorder risk allele at CACNA1C also confers risk of recurrent major depression and of schizophrenia, Mol Psychiatry, 15, 1016, 10.1038/mp.2009.49 Ferreira, 2008, Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder, Nat Genet, 40, 1056, 10.1038/ng.209 Moskvina, 2009, Gene-wide analyses of genome-wide association data sets: evidence for multiple common risk alleles for schizophrenia and bipolar disorder and for overlap in genetic risk, Mol Psychiatry, 14, 252, 10.1038/mp.2008.133 2014, Biological insights from 108 schizophrenia-associated genetic loci, Nature, 511, 421, 10.1038/nature13595 Hamshere, 2013, Genome-wide significant associations in schizophrenia to ITIH3/4, CACNA1C and SDCCAG8, and extensive replication of associations reported by the Schizophrenia PGC, Mol Psychiatry, 18, 708, 10.1038/mp.2012.67 Splawski, 2004, Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism, Cell, 119, 19, 10.1016/j.cell.2004.09.011 Mio, 2020, CACNA1C haploinsufficiency accounts for the common features of interstitial 12p13.33 deletion carriers, Eur J Med Genet, 63, 10.1016/j.ejmg.2020.103843 Quintela, 2017, Copy number variation analysis of patients with intellectual disability from North-West Spain, Gene, 626, 189, 10.1016/j.gene.2017.05.032 Roberts, 2014, Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services, Gene, 535, 70, 10.1016/j.gene.2013.10.020 Kaplanis, 2020, Evidence for 28 genetic disorders discovered by combining healthcare and research data, Nature, 586, 757, 10.1038/s41586-020-2832-5 Splawski, 2005, Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations, Proc Natl Acad Sci U S A, 102, 8089, 10.1073/pnas.0502506102 Fröhler, 2014, Exome sequencing helped the fine diagnosis of two siblings afflicted with atypical Timothy syndrome (TS2), BMC Med Genet, 15, 48, 10.1186/1471-2350-15-48 Gillis, 2012, Long QT, syndactyly, joint contractures, stroke and novel CACNA1C mutation: expanding the spectrum of Timothy syndrome, Am J Med Genet A, 158A, 182, 10.1002/ajmg.a.34355 Krause, 2011, A rare association of long QT syndrome and syndactyly: Timothy syndrome (LQT 8), Clin Res Cardiol, 100, 1123, 10.1007/s00392-011-0358-4 Boczek, 2015, Novel Timothy syndrome mutation leading to increase in CACNA1C window current, Heart Rhythm, 12, 211, 10.1016/j.hrthm.2014.09.051 Hennessey, 2014, A CACNA1C variant associated with reduced voltage-dependent inactivation, increased CaV1.2 channel window current, and arrhythmogenesis, PLoS One, 9, 10.1371/journal.pone.0106982 Boczek, 2015, Identification and functional characterization of a novel CACNA1C-mediated cardiac disorder characterized by prolonged QT intervals with hypertrophic cardiomyopathy, congenital heart defects, and sudden cardiac death, Circ Arrhythm Electrophysiol, 8, 1122, 10.1161/CIRCEP.115.002745 Boczek, 2013, Exome sequencing and systems biology converge to identify novel mutations in the L-type calcium channel, CACNA1C, linked to autosomal dominant long QT syndrome, Circ Cardiovasc Genet, 6, 279, 10.1161/CIRCGENETICS.113.000138 Landstrom, 2016, Novel long QT syndrome-associated missense mutation, L762F, in CACNA1C-encoded L-type calcium channel imparts a slower inactivation tau and increased sustained and window current, Int J Cardiol, 220, 290, 10.1016/j.ijcard.2016.06.081 Wemhöner, 2015, Gain-of-function mutations in the calcium channel CACNA1C (Cav1.2) cause non-syndromic long-QT but not Timothy syndrome, J Mol Cell Cardiol, 80, 186, 10.1016/j.yjmcc.2015.01.002 Mellor, 2019, Type 8 long QT syndrome: pathogenic variants in CACNA1C-encoded Cav1.2 cluster in STAC protein binding site, Europace, 21, 1725, 10.1093/europace/euz215 Fukuyama, 2013, L-type calcium channel mutations in Japanese patients with inherited arrhythmias, Circ J, 77, 1799, 10.1253/circj.CJ-12-1457 Liu, 2017, A mutation in the CACNA1C gene leads to early repolarization syndrome with incomplete penetrance: a Chinese family study, PLoS One, 12 Rodan, 2021, Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations, Genet Med, 23, 1922, 10.1038/s41436-021-01232-8 Bozarth, 2018, Expanding clinical phenotype in CACNA1C related disorders: from neonatal onset severe epileptic encephalopathy to late-onset epilepsy, Am J Med Genet A, 176, 2733, 10.1002/ajmg.a.40657 Iossifov, 2014, The contribution of de novo coding mutations to autism spectrum disorder, Nature, 515, 216, 10.1038/nature13908 2017, Prevalence and architecture of de novo mutations in developmental disorders, Nature, 542, 433, 10.1038/nature21062 Han, 2019, Dysfunctional Cav1.2 channel in Timothy syndrome, from cell to bedside, Exp Biol Med (Maywood), 244, 960, 10.1177/1535370219863149 Bauer, 2021, Update on the molecular genetics of Timothy syndrome, Front Pediatr, 9, 10.3389/fped.2021.668546 Frankenburg, 1992 Jacobs, 2006, Verapamil decreases ventricular tachyarrhythmias in a patient with Timothy syndrome (LQT8), Heart Rhythm, 3, 967, 10.1016/j.hrthm.2006.04.024 Gershon, 2014, A rare mutation of CACNA1C in a patient with bipolar disorder, and decreased gene expression associated with a bipolar-associated common SNP of CACNA1C in brain, Mol Psychiatry, 19, 890, 10.1038/mp.2013.107 Moon, 2018, CACNA1C: association with psychiatric disorders, behavior, and neurogenesis, Schizophr Bull, 44, 958, 10.1093/schbul/sby096 Moon, 2020, Cacna1c hemizygosity results in aberrant fear conditioning to neutral stimuli, Schizophr Bull, 7, sbz127 Tigaret, 2021, Neurotrophin receptor activation rescues cognitive and synaptic abnormalities caused by hemizygosity of the psychiatric risk gene Cacna1c, Mol Psychiatry, 26, 1748, 10.1038/s41380-020-01001-0 Bader, 2011, Mouse model of Timothy syndrome recapitulates triad of autistic traits, Proc Natl Acad Sci U S A, 108, 15432, 10.1073/pnas.1112667108 Paşca, 2011, Using iPSC-derived neurons to uncover cellular phenotypes associated with Timothy syndrome, Nat Med, 17, 1657, 10.1038/nm.2576 Birey, 2017, Assembly of functionally integrated human forebrain spheroids, Nature, 545, 54, 10.1038/nature22330 Birey, 2022, Dissecting the molecular basis of human interneuron migration in forebrain assembloids from Timothy syndrome, Cell Stem Cell, 29, 248, 10.1016/j.stem.2021.11.011