Polymorphism of clinical manifestations of orphan diseases in children with ARID1A and ARID1B gene mutations
DOI:
https://doi.org/10.15574/PP.2024.97.122Keywords:
neurodevelopmental disorders, epilepsy, genetic syndrome, Coffin-Siris syndrome, ARID-dependent disorders, subependymal giant cell astrocytomaAbstract
The Department of Psychoneurology for Children with Perinatal Pathology and Orphan Diseases at the SI “Institute of Pediatrics, Obstetrics and Gynecology named after academician O.M. Lukyanova of the NAMS of Ukraine” has a multidisciplinary team which provides care to children with orphan diseases from all over Ukraine. Thanks to modern methods of clinical, instrumental and genetic diagnostics, it is possible to establish a definitive diagnosis.
Aim - to provide a literature review and a clinical case of a child with pathogenic variants of the ARID family genes, which, in particular, lead to the development of Coffin-Circe syndrome (CCS), autism spectrum disorder and intellectual disability, as well as the development of nervous system tumors in children.
The article presents a clinical case of a child with a rare disease - CCS, which is part of the ARID gene mutation spectrum. The general clinical and neurological examination, electroencephalographic sleep monitoring, magnetic resonance imaging, whole-exome sequencing, and pathological examination were performed. The difficulty of diagnosis was that a child with skin manifestations of phacomatosis was diagnosed with subependymal giant cell astrocytoma (SGСA) by magnetic resonance imaging, but there were no mutations characteristic of tuberous sclerosis (TSC1, TSC2). Pathologically, the patient was confirmed to have grade I SGСA according to the World Health Organization classification. Two pathogenic mutations of the ARID1A gene in the compound heterozygous state were detected by whole-exome sequencing. After combining the combined clinical and instrumental signs, the diagnosis of CCS with grade I SGСA was established.
Conclusions. The disorders caused by ARID1A and ARID1B mutations belong to a spectrum that includes syndromic and non-syndromic cases of intellectual disability, autism spectrum disorder, and CCS with or without a variety of somatic and neurological symptoms, and are grouped under the general term “ARID-related disorders”. Only a thorough medical history, clinical examination, and modern methods of instrumental and genetic diagnostics can make a diagnosis.
The research was carried out in accordance with the principles of the Declaration of Helsinki. Informed consent of the women was obtained for the research.
No conflict of interests was declared by the authors.
References
Alberts B, Johnson A, Lewis J et al. (2002). Molecular Biology of the Cell. 4th edition. New York: Garland Science; Chromosomal DNA and Its Packaging in the Chromatin Fiber. URL: https://www.ncbi.nlm.nih.gov/books/NBK26834/.
Backx L, Seuntjens E, Devriendt K, Vermeesch J, van Esch H. (2011). A balanced translocation t(6;14)(q25.3;q13.2) leading to reciprocal fusion transcripts in a patient with intellectual disability and agenesis of corpus callosum. Cytogenet Genome Res. 132: 135-143. https://doi.org/10.1159/000321577; PMid:21042007
Elliott AM, Teebi AS. (2000). New autosomal dominant syndrome reminiscent of Coffin-Siris syndrome and brachymorphism-onychodysplasia-dysphalangism syndrome. Clin Dysmorphol. 9: 15-19. https://doi.org/10.1097/00019605-200009010-00003; PMid:10649791
Gao C, Zabielska B, Jiao F, Mei D, Wang X, Kotulska K, Jozwiak S. (2023). Subependymal Giant Cell Astrocytomas in Tuberous Sclerosis Complex-Current Views on Their Pathogenesis and Management. Journal of clinical medicine. 12(3): 956. https://doi.org/10.3390/jcm12030956; PMid:36769603 PMCid:PMC9917805
Halgren C, Kjaergaard S, Bak M, Hansen C, El-Schich Z, Anderson CM et al. (2012). Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B. Clin Genet. 82: 248-255. https://doi.org/10.1111/j.1399-0004.2011.01755.x; PMid:21801163 PMCid:PMC3464360
Kosho T, Okamoto N, Coffin-Siris Syndrome International Collaborators. (2014). Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A. American journal of medical genetics. Part C, Seminars in medical genetics. 166C(3): 262-275. https://doi.org/10.1002/ajmg.c.31407; PMid:25168959
Li JJ, Lee CS. (2023). The Role of the AT-Rich Interaction Domain 1A Gene (ARID1A) in Human Carcinogenesis. Genes. 15(1): 5. https://doi.org/10.3390/genes15010005; PMid:38275587 PMCid:PMC10815128
Lin C, Song W, Bi X, Zhao J, Huang Z, Li Z et al. (2014). Recent advances in the ARID family: focusing on roles in human cancer. OncoTargets and therapy. 7: 315-324. https://doi.org/10.2147/OTT.S57023; PMid:24570593 PMCid:PMC3933769
Moffat JJ, Jung EM, Ka M, Jeon BT, Lee H, Kim WY. (2021). Differential roles of ARID1B in excitatory and inhibitory neural progenitors in the developing cortex. Scientific reports. 11(1): 3856. https://doi.org/10.1038/s41598-021-82974-y; PMid:33594090 PMCid:PMC7886865
Moffat JJ, Smith AL, Jung EM, Ka M, Kim WY. (2022). Neurobiology of ARID1B haploinsufficiency related to neurodevelopmental and psychiatric disorders. Molecular psychiatry. 27(1): 476-489. https://doi.org/10.1038/s41380-021-01060-x; PMid:33686214 PMCid:PMC8423853
Nagamani SC, Erez A, Eng C, Ou Z, Chinault C, Workman L et al. (2009). Interstitial deletion of 6q25.2-q25.3: A novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss. Eur J Hum Genet. 17: 573-581. https://doi.org/10.1038/ejhg.2008.220; PMid:19034313 PMCid:PMC2986272
Pagliaroli L, Trizzino M. (2021). The Evolutionary Conserved SWI/SNF Subunits ARID1A and ARID1B Are Key Modulators of Pluripotency and Cell-Fate Determination. Frontiers in cell and developmental biology. 9: 643361. https://doi.org/10.3389/fcell.2021.643361; PMid:33748136 PMCid:PMC7969888
Santen GW, Aten E, Sun Y, Almomani R, Gilissen C, Nielsen M et al. (2012). Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. Nat Genet. 44: 379-380. https://doi.org/10.1038/ng.2217; PMid:22426309
Santen GW, Clayton-Smith J et al. (2014). The ARID1B phenotype: what we have learned so far. Am J Med Genet C Semin Med Genet. 166C: 276-289. https://doi.org/10.1002/ajmg.c.31414; PMid:25169814
Schrier SA, Bodurtha JN, Burton B, Chudley AE, Chiong MA, D'avanzo MG et al. (2012). The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases. American journal of medical genetics. Part A. 158A(8): 1865-1876. https://doi.org/10.1002/ajmg.a.35415; PMid:22711679 PMCid:PMC3402612
Schrier Vergano S, Santen G, Wieczorek D et al. (2013, Apr 4). Coffin-Siris Syndrome. [Updated 2021 Aug 12]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. URL: https://www.ncbi.nlm.nih.gov/books/NBK131811/.
Sim JC, White SM, Lockhart PJ. (2015). ARID1B-mediated disorders: Mutations and possible mechanisms. Intractable & rare diseases research. 4(1): 17-23. https://doi.org/10.5582/irdr.2014.01021; PMid:25674384 PMCid:PMC4322591
Smith AL, Jung EM, Jeon BT, Kim WY. (2020). Arid1b haploinsufficiency in parvalbumin- or somatostatin-expressing interneurons leads to distinct ASD-like and ID-like behavior. Scientific reports. 10(1): 7834. https://doi.org/10.1038/s41598-020-64066-5; PMid:32398858 PMCid:PMC7217886
Tsurusaki Y, Okamoto N et al. (2012). Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. Nat Genet. 44: 376-378. https://doi.org/10.1038/ng.2219; PMid:22426308
Van der Sluijs PJ, Jansen S, Vergano SA, Adachi-Fukuda M, Alanay Y, AlKindy A et al. (2019). The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome. Genet Med. 21(6): 1295-1307.
Vergano SA, van der Sluijs PJ, Santen G. (2019, May 23). ARID1B-Related Disorder. In: Adam MP, Feldman J, Mirzaa GM et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. URL: https://www.ncbi.nlm.nih.gov/books/NBK541502/.
Wanior M, Krämer A, Knapp S, Joerger AC. (2021). Exploiting vulnerabilities of SWI/SNF chromatin remodelling complexes for cancer therapy. Oncogene. 40(21): 3637-3654. https://doi.org/10.1038/s41388-021-01781-x; PMid:33941852 PMCid:PMC8154588
Downloads
Published
Issue
Section
License
Copyright (c) 2024 Ukrainian Journal of Perinatology and Pediatrics
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
The policy of the Journal “Ukrainian Journal of Perinatology and Pediatrics” is compatible with the vast majority of funders' of open access and self-archiving policies. The journal provides immediate open access route being convinced that everyone – not only scientists - can benefit from research results, and publishes articles exclusively under open access distribution, with a Creative Commons Attribution-Noncommercial 4.0 international license(СС BY-NC).
Authors transfer the copyright to the Journal “MODERN PEDIATRICS. UKRAINE” when the manuscript is accepted for publication. Authors declare that this manuscript has not been published nor is under simultaneous consideration for publication elsewhere. After publication, the articles become freely available on-line to the public.
Readers have the right to use, distribute, and reproduce articles in any medium, provided the articles and the journal are properly cited.
The use of published materials for commercial purposes is strongly prohibited.
