Yeargin-Allsopp, M. et al. Prevalence of cerebral palsy in 8-year-old children in three areas of the United States in 2002: a multisite collaboration. Pediatrics 121, 547554 (2008).

Article PubMed Google Scholar

Lee, R. W. et al. A diagnostic approach for cerebral palsy in the genomic era. Neuromolecular Med. 16, 821844 (2014).

Article CAS PubMed PubMed Central Google Scholar

Beysen, D. et al. Genetic testing contributes to diagnosis in cerebral palsy: Aicardi-Goutieres syndrome as an example. Front Neurol. 12, 617813 (2021).

Article PubMed PubMed Central Google Scholar

Chang, M. J., Ma, H. I. & Lu, T. H. Estimating the prevalence of cerebral palsy in Taiwan: a comparison of different case definitions. Res. Dev. Disabil. 36C, 207212 (2015).

Article PubMed Google Scholar

MacLennan, A. H., Thompson, S. C. & Gecz, J. Cerebral palsy: causes, pathways, and the role of genetic variants. Am. J. Obstet. Gynecol. 213, 779788 (2015).

Article PubMed Google Scholar

Smithers-Sheedy, H. et al. A special supplement: findings from the Australian Cerebral Palsy Register, birth years 1993 to 2006. Dev. Med. Child Neurol. 58, 510 (2016).

Article PubMed Google Scholar

Sellier, E. et al. Trends in prevalence of cerebral palsy in children born with a birthweight of 2,500 g or over in Europe from 1980 to 1998. Eur. J. Epidemiol. 25, 635642 (2010).

Article PubMed Google Scholar

Gonzalez-Mantilla, P. J. et al. Diagnostic yield of exome sequencing in cerebral palsy and implications for genetic testing guidelines: a systematic review and meta-analysis. JAMA Pediatr. 177, 472478 (2023).

Article PubMed PubMed Central Google Scholar

Moreno-De-Luca, A., Ledbetter, D. H. & Martin, C. L. Genetic insights into the causes and classification of cerebral palsies. Lancet Neurol. 11, 283292 (2012).

Article CAS PubMed PubMed Central Google Scholar

Hemminki, K., Li, X. J., Sundquist, K. & Sundquist, J. High familial risks for cerebral palsy implicate partial heritable aetiology. Paediatr. Perinat. Epidemiol. 21, 235241 (2007).

Article PubMed Google Scholar

Tollanes, M. C., Wilcox, A. J., Lie, R. T. & Moster, D. Familial risk of cerebral palsy: population based cohort study. BMJ 349, g4294 (2014).

Article PubMed PubMed Central Google Scholar

Zhang, G. et al. Genetic associations with gestational duration and spontaneous preterm birth. N. Engl. J. Med. 377, 11561167 (2017).

Article CAS PubMed PubMed Central Google Scholar

Lynex, C. N. et al. Homozygosity for a missense mutation in the 67 kDa isoform of glutamate decarboxylase in a family with autosomal recessive spastic cerebral palsy: parallels with Stiff-Person Syndrome and other movement disorders. BMC Neurol. 4, 20 (2004).

Article PubMed PubMed Central Google Scholar

Lerer, I. et al. Deletion of the ANKRD15 gene at 9p24.3 causes parent-of-origin-dependent inheritance of familial cerebral palsy. Hum. Mol. Genet. 14, 39113920 (2005).

Article CAS PubMed Google Scholar

Abou Jamra, R. et al. Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. Am. J. Hum. Genet. 88, 788795 (2011).

Article CAS PubMed PubMed Central Google Scholar

Moreno-De-Luca, A. et al. Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability. J. Med. Genet. 48, 141144 (2011).

Article CAS PubMed Google Scholar

Verkerk, A. J. et al. Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy. Am. J. Hum. Genet. 85, 4052 (2009).

Article CAS PubMed PubMed Central Google Scholar

Kruer, M. C. et al. Mutations in gamma adducin are associated with inherited cerebral palsy. Ann. Neurol. 74, 805814 (2013).

Article CAS PubMed Google Scholar

Hirata, H. et al. ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity. Am. J. Hum. Genet. 92, 681695 (2013).

Article CAS PubMed PubMed Central Google Scholar

van Eyk, C., MacLennan, S. C. & MacLennan, A. H. All patients with a cerebral palsy diagnosis merit genomic sequencing. JAMA Pediatr. 177, 455456 (2023).

Article PubMed Google Scholar

Liu, J. C. et al. Multi-omics research in sarcopenia: current progress and future prospects. Ageing Res. Rev. 76, 101576 (2022).

Article CAS PubMed Google Scholar

Srivastava, S. et al. Molecular diagnostic yield of exome sequencing and chromosomal microarray in cerebral palsy: a systematic review and meta-analysis. JAMA Neurol. 79, 12871295 (2022).

Article PubMed PubMed Central Google Scholar

Nagy, E. et al. The usefulness of MRI Classification System (MRICS) in a cerebral palsy cohort. Acta Paediatr. 109, 27832788 (2020).

Article PubMed Google Scholar

Himmelmann, K. et al. MRI classification system (MRICS) for children with cerebral palsy: development, reliability, and recommendations. Dev. Med. Child Neurol. 59, 5764 (2017).

Article PubMed Google Scholar

Paneth, N. & Stark, R. I. Cerebral palsy and mental retardation in relation to indicators of perinatal asphyxia. An epidemiologic overview. Am. J. Obstet. Gynecol. 147, 960966 (1983).

Article CAS PubMed Google Scholar

van Rappard, D. F., Boelens, J. J. & Wolf, N. I. Metachromatic leukodystrophy: disease spectrum and approaches for treatment. Best. Pract. Res. Clin. Endocrinol. Metab. 29, 261273 (2015).

Article PubMed Google Scholar

Lerner-Ellis, J. P. et al. Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. Nat. Genet. 38, 93100 (2006).

Article CAS PubMed Google Scholar

Allewelt, H. et al. Long-term functional outcomes after hematopoietic stem cell transplant for early infantile Krabbe disease. Biol. Blood Marrow Transpl. 24, 22332238 (2018).

Article Google Scholar

Zhong, C. et al. M6A-modified circRBM33 promotes prostate cancer progression via PDHA1-mediated mitochondrial respiration regulation and presents a potential target for ARSI therapy. Int J. Biol. Sci. 19, 15431563 (2023).

Article CAS PubMed PubMed Central Google Scholar

Haussler, M., Hoffmann, G. F. & Wevers, R. A. l-DOPA and selegiline for tyrosine hydroxylase deficiency. J. Pediatr. 138, 451452 (2001).

Article CAS PubMed Google Scholar

Huppke, P. et al. Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder. Nat. Commun. 8, 818 (2017).

Article PubMed PubMed Central Google Scholar

Friedman, J., Hyland, K., Blau, N. & MacCollin, M. DOPA-responsive hypersomnia and mixed movement disorder due to sepiapterin reductase deficiency. Neurology 67, 20322035 (2006).

Article PubMed Google Scholar

Moreno-De-Luca, A. et al. Molecular diagnostic yield of exome sequencing in patients with cerebral palsy. JAMA 325, 467475 (2021).

Article CAS PubMed PubMed Central Google Scholar

Ioannidis, N. M. et al. REVEL: an ensemble method for predicting the pathogenicity of rare missense variants. Am. J. Hum. Genet. 99, 877885 (2016).

Article CAS PubMed PubMed Central Google Scholar

Ke, H. N. et al. Landscape of pathogenic mutations in premature ovarian insufficiency. Nat. Med. 29, 483492 (2023).

Article CAS PubMed PubMed Central Google Scholar

McMichael, G. et al. Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy. Mol. Psychiatry 20, 176182 (2015).

Article CAS PubMed Google Scholar

Takezawa, Y. et al. Genomic analysis identifies masqueraders of full-term cerebral palsy. Ann. Clin. Transl. Neurol. 5, 538551 (2018).

Article CAS PubMed PubMed Central Google Scholar

Matthews, A. M. et al. Atypical cerebral palsy: genomics analysis enables precision medicine. Genet. Med. 21, 16211628 (2019).

Article CAS PubMed Google Scholar

Bamshad, M. J., Nickerson, D. A. & Chong, J. X. Mendelian gene discovery: fast and furious with no end in sight. Am. J. Hum. Genet. 105, 448455 (2019).

Article CAS PubMed PubMed Central Google Scholar

van Eyk, C. L. et al. Analysis of 182 cerebral palsy transcriptomes points to dysregulation of trophic signalling pathways and overlap with autism. Transl. Psychiatry 8, 88 (2018).

Article PubMed PubMed Central Google Scholar

van Eyk, C. L. et al. Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing. NPJ Genom. Med. 6, 74 (2021).

Article PubMed PubMed Central Google Scholar

MacLennan, A. A template for defining a causal relation between acute intrapartum events and cerebral palsy: international consensus statement. BMJ 319, 10541059 (1999).

Article CAS PubMed PubMed Central Google Scholar

OBrien, J. R., Usher, R. H. & Maughan, G. B. Causes of birth asphyxia and trauma. Can. Med. Assoc. J. 94, 10771085 (1966).

PubMed PubMed Central Google Scholar

Windle, W. F. Neurological and psychological deficits from asphyxia neonatorum. Public Health Rep. (1896) 72, 646650 (1957).

Article CAS PubMed Google Scholar

Phelan, J. P., Martin, G. I. & Korst, L. M. Birth asphyxia and cerebral palsy. Clin. Perinatol. 32, 6176 (2005).

Article PubMed Google Scholar

Sartwelle, T. P., Johnston, J. C. & Arda, B. A half century of electronic fetal monitoring and bioethics: silence speaks louder than words. Matern. Health Neonatol. Perinatol. 3, 21 (2017).

Article PubMed PubMed Central Google Scholar

Zarrei, M. et al. De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy. Genet. Med. 20, 172180 (2018).

Article PubMed Google Scholar

Han, V. X., Patel, S., Jones, H. F. & Dale, R. C. Maternal immune activation and neuroinflammation in human neurodevelopmental disorders. Nat. Rev. Neurol. 17, 564579 (2021).

Article PubMed Google Scholar

Jung, E. et al. Clinical chorioamnionitis at term: definition, pathogenesis, microbiology, diagnosis, and treatment. Am. J. Obstet. Gynecol. 230, S807S840 (2024).

Article PubMed Google Scholar

Prieto-Villalobos, J. et al. Astroglial hemichannels and pannexons: the hidden link between maternal inflammation and neurological disorders. Int. J. Mol. Sci. 22, 9503 (2021).

Article CAS PubMed PubMed Central Google Scholar

Excerpt from:
Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy - Nature.com

Comments are closed.