GATAD2B基因突变致GAND综合征1例并文献复习

罗光金, 张璇, 李小平, 苑爱云, 侯梅, 陈军

中国儿童保健杂志 ›› 2023, Vol. 31 ›› Issue (11) : 1270-1272.

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中国儿童保健杂志 ›› 2023, Vol. 31 ›› Issue (11) : 1270-1272. DOI: 10.11852/zgetbjzz2022-0998
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GATAD2B基因突变致GAND综合征1例并文献复习

  • 罗光金1, 张璇2, 李小平1, 苑爱云1, 侯梅1, 陈军1
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Case report of GAND syndrome caused by GATAD2B gene mutation and literature review 

  • LUO Guangjin, ZHANG Xuan, LI Xiaoping, Yuan Aiyun, Hou Mei, Chen Jun
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罗光金, 张璇, 李小平, 苑爱云, 侯梅, 陈军. GATAD2B基因突变致GAND综合征1例并文献复习[J]. 中国儿童保健杂志. 2023, 31(11): 1270-1272 https://doi.org/10.11852/zgetbjzz2022-0998
LUO Guangjin, ZHANG Xuan, LI Xiaoping, Yuan Aiyun, Hou Mei, Chen Jun. Case report of GAND syndrome caused by GATAD2B gene mutation and literature review [J]. Chinese Journal of Child Health Care. 2023, 31(11): 1270-1272 https://doi.org/10.11852/zgetbjzz2022-0998
中图分类号: R749.94   

参考文献

[1] Willemsen MH, Nijhof B, Fenckova M, et al. GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila[J]. J Med Genet, 2013,50(8):507-514.
[2] Trubnykova M, Bazalar Montoya J, La Serna-Infantes J, et al. GATAD2B Gene microdeletion causing intellectual disability autosomal dominant type 18:Case report and review of the literature[J]. Mol Syndromol, 2019,10(4):186-194.
[3] Shieh C, Jones N, Vanle B, et al. GATAD2B-associated neurodevelopmental disorder (GAND):Clinical and molecular insights into a NuRD-related disorder[J]. Genet Med, 2020,22(5):878-888.
[4] Vera G, Sorlin A, Delplancq G, et al. Clinical and molecular description of 19 patients with GATAD2B-associated neurodevelopmental disorder (GAND)[J]. Eur J Med Genet, 2020,63(10):104004.
[5] Ueda K, Yanagi K, Kaname T, et al. A novel mutation in the GATAD2B gene associated with severe intellectual disability[J]. Brain Dev, 2019,41(3):276-279.
[6] 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.
[7] Torchy MP, Hamiche A, Klaholz BP. Structure and function insights into the NuRD chromatin remodeling complex[J]. Cell Mol Life Sci, 2015,72(13):2491-2507.
[8] Basta J, Rauchman M. The nucleosome remodeling and deacetylase complex in development and disease[J]. Transl Res, 2015,165(1):36-47.
[9] Fagerberg L, Hallström BM, Oksvold P, et al. Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics[J]. Mol Cell Proteomics, 2014,13(2):397-406.
[10] de Ligt J, Willemsen MH, van Bon BW, et al. Diagnostic exome sequencing in persons with severe intellectual disability[J]. N Engl J Med, 2012,367(20):1921-1929.
[11] Kaur P, Mishra S, Rajesh SM, et al. GATAD2B-related intellectual disability due to parental mosaicism and review of literature[J]. Clin Dysmorphol, 2019,28(4):190-194.
[12] Pierson TM, Otero MG, Grand K, et al. The NuRD complex and macrocephaly associated neurodevelopmental disorders[J]. Am J Med Genet C Semin Med Genet, 2019,181(4):548-556.
[13] Tim-Aroon T, Jinawath N, Thammachote W, et al. 1q21.3 deletion involving GATAD2B:An emerging recurrent microdeletion syndrome[J]. Am J Med Genet A, 2017,173(3):766-770.
[14] Luo X, Zou Y, Tan B, et al. Novel GATAD2B loss-of-function mutations cause intellectual disability in two unrelated cases[J]. J Hum Genet, 2017,62(4):513-516.

基金

青岛市医药科研指导计划项目(2020-WJZD130);青岛市医疗卫生优秀人才培养项目资助(2020-2022)

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