ARID1B基因变异所致Coffin-Siris综合征合并孤独症谱系障碍2例报道并文献复习

李梦月; 李慧慧; 黄永; 王甘雨; 韩惠惠; 孙爽; 史晓依; 王阳阳; 王亚哲

doi:10.11852/zgetbjzz2024-0443

PDF(7776 KB)

中国儿童保健杂志 ›› 2025, Vol. 33 ›› Issue (1) : 112-116. DOI: 10.11852/zgetbjzz2024-0443

个案报道

ARID1B基因变异所致Coffin-Siris综合征合并孤独症谱系障碍2例报道并文献复习

李梦月¹, 李慧慧¹, 黄永¹, 王甘雨¹, 韩惠惠¹, 孙爽¹, 史晓依¹, 王阳阳², 王亚哲¹

作者信息 +

文章历史 +

关键词

Coffin-Siris综合征 / 孤独症谱系障碍 / ARID1B基因 / 基因突变

引用本文

EndNote

Ris (Procite)

Bibtex

导出引用

李梦月, 李慧慧, 黄永, 王甘雨, 韩惠惠, 孙爽, 史晓依, 王阳阳, 王亚哲. ARID1B基因变异所致Coffin-Siris综合征合并孤独症谱系障碍2例报道并文献复习[J]. 中国儿童保健杂志. 2025, 33(1): 112-116 https://doi.org/10.11852/zgetbjzz2024-0443

中图分类号： R749.94 R725.9

参考文献

[1] Purpura G, Fulceri F, Puglisi V, et al. Motor coordination impairment in children with autism spectrum disorder: A pilot study using Movement Assessment Battery for Children-2 Checklist[J]. Minerva Pediatr, 2020, 72(1):22-29.
[2] Kosho T, Okamoto N, et al. Genotype-phenotype correlation of coffin-siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A[J]. Am J Med Genet C Semin Med Genet, 2014, 166C(3):262-275.
[3] Celen C, Chuang JC, Luo X, et al. Arid1b haploinsufficient mice reveal neurop-sychiatric phenotypes and reversible causes of growth impairment[J]. Elife, 2017, 6:e25730.
[4] Moffat JJ, Smith AL, Jung EM, et al. Neurobiology ofARID1B haploinsufficiency related to neurodevelopmental and psychiatric disorders[J]. Mol Psychiatry, 2022, 27(1):476-489.
[5] Maenner MJ, Warren Z, Williams AR, et al. Prevalence and characteristics of autism spectrum disorder among children aged 8 years-autism and developmental disabilities Monitoring Network, 11 Sites, United States, 2020[J]. MMWR Surveill Summ,2023,72(2):1-14.
[6] Griesi-Oliveira K, Sertié A L. Autism spectrum disorders: An updated guide for genetic counseling[J]. Einstein (Sao Paulo), 2017, 15(2):233-238.
[7] Hersh JH, Bloom AS, Weisskopf B. Childhood autism in a female with Coffin Siris Syndrome[J]. J Dev Behav Pediatr, 1982, 3(4):249-252.
[8] Richards S, Aziz N, Bale S, et al. 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[J]. Genet Med, 2015, 17(5):405-424.
[9] Demily C, Duwime C, Lopez C, et al. Corpus callosum metrics predict severity of visuospatial and neuromotor dysfunctions inARID1B mutations with Coffin-Siris syndrome[J]. Psychiatr Genet, 2019, 29(6):237-242.
[10] Lohiya N, Chalipat S, Lohiya N, et al. Neurocognitive, behavioral and socio-adaptive functioning assessment in a case of Coffin-Siris syndrome: A holistic approach/perspective beyond the identification of the disorder[J]. J Pediatr Rehabil Med, 2022, 15(3):529-532.
[11] 陈梦莹,夏冬晴.表现为孤独症,语言障碍的Coffin-Siris综合征1例[J].中国临床案例成果数据库,2022,4(1):e02163-e02163.
Chen MY, Xia DQ. A case report: Coffin-Siris syndrome manifested by autism and language disorder[J]. Chinese Medical Care Repository, 2022, 4(1):e02163-e02163.(in Chinese)
[12] Milutinovic L, Grujicic R, Mandic Maravic V, et al. Autism spectrum disorder and Coffin-Siris syndrome-Case report[J]. Front Psychiatry, 2023, 14:199710.
[13] 郭毅,曾婷,刘需需,等.一例Coffin-Siris综合征浅析及相关文献复习[J].中国优生与遗传杂志,2020,28(7):830-832.
Guo Y, Zeng T, Liu XX, et al. The analysis of a case of Coffin-Siris syndrome and the review of related literature[J]. Chin J Birth Health & Heredity, 2020, 28(7):830-832.(in Chinese)
[14] Tan Y, Chen J, Li Y, et al. Three novel ARID1B variations in Coffin-Siris Syndrome patients[J]. Neurol India, 2022,70(5):2174-2179.
[15] 车凤玉,杨颖,张李钰,等.两例Coffin-Siris综合征1型患者的临床特征及遗传学分析[J].中华医学遗传学杂志,2022,39(8):848-853.
Che FY, Yang Y, Zhang LY, et al. Clinical features and genetic analysis of two Chinese patients with Coffin Siris syndrome-1[J].Chin J Med Genet, 2022, 39(8):848-853.(in Chinese)
[16] Bramswig NC, Caluseriu O, Lüdecke HJ, et al. Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin-Siris syndrome-like phenotype[J]. Hum Genet, 2017, 136(3):297-305.
[17] Lai MC, Lombardo MV, Baron-Cohen S. Autism[J]. Lancet, 2014, 383(9920):896-910.
[18] Ellegood J, Petkova SP, Kinman A, et al. Neuroanatomy and behavior in mice with a haploinsufficiency of AT-rich interactive domain 1B (ARID1B) throughout development[J]. Mol Autism, 2021, 12(1):25.
[19] Paulsen B, Velasco S, Kedaigle A J, et al. Autism genes converge on asynchronous development of shared neuron classes[J]. Nature, 2022, 602(7896):268-273.
[20] Jung EM, Moffat JJ, Liu J, et al. Arid1b haploinsufficiency disrupts cortical interneuron development and mouse behavior[J]. Nat Neurosci, 2017, 20(12):1694-1707.
[21] Satterstrom FK, Kosmicki JA, Wang J, et al. Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism[J]. Cell, 2020, 180(3):568-584.e523.
[22] Zulauf Logoz M.The revision and 5th edition of the diagnostic and statistical manual of mental disorders (DSM-5): Consequences for the diagnostic work with children and adolescents[J]. Prax Kinderpsychol Kinderpsychiatr, 2014, 63 (7): 562-576.