Novel de novo mutation in KAT6A gene in a child with severe aplastic anemia

Pediatric Blood & CancerEarly View e30417 LETTER TO THE EDITOR Novel de novo mutation in KAT6A gene in a child with severe aplastic anemia Yu-Hua Chao, Yu-Hua Chao orcid.org/0000-0003-1727-5847 Department of Clinical Pathology, Chung Shan Medical University Hospital, Taichung, Taiwan Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, Taiwan School of Medicine, Chung Shan Medical University, Taichung, TaiwanSearch for more papers by this authorJan-Gowth Chang, Corresponding Author Jan-Gowth Chang [email protected] Epigenome Research Center, China Medical University Hospital, Taichung, Taiwan Center for Precision Medicine, China Medical University Hospital, Taichung, Taiwan Correspondence Jan-Gowth Chang, Center for Precision Medicine, China Medical University Hospital, No. 2, Yuh-Der Rd, Taichung 404, Taiwan. Email: [email protected]Search for more papers by this author Yu-Hua Chao, Yu-Hua Chao orcid.org/0000-0003-1727-5847 Department of Clinical Pathology, Chung Shan Medical University Hospital, Taichung, Taiwan Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, Taiwan School of Medicine, Chung Shan Medical University, Taichung, TaiwanSearch for more papers by this authorJan-Gowth Chang, Corresponding Author Jan-Gowth Chang [email protected] Epigenome Research Center, China Medical University Hospital, Taichung, Taiwan Center for Precision Medicine, China Medical University Hospital, Taichung, Taiwan Correspondence Jan-Gowth Chang, Center for Precision Medicine, China Medical University Hospital, No. 2, Yuh-Der Rd, Taichung 404, Taiwan. Email: [email protected]Search for more papers by this author First published: 03 June 2023 https://doi.org/10.1002/pbc.30417Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL No abstract is available for this article. REFERENCES 1Rauch A, Wieczorek D, Graf E, et al. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet. 2012; 380(9854): 1674- 1682. 2de Ligt J, Willemsen MH, van Bon BW, et al. Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med. 2012; 1(20): 1921- 1929. 3Rehm HL, Bale SJ, Bayrak-Toydemir P, et al. ACMG clinical laboratory standards for next-generation sequencing. Genet Med. 2013; 15(9): 733- 747. 4Adzhubei IA, Schmidt S, Peshkin L, et al. A method and server for predicting damaging missense mutations. Nat Methods. 2010; 7(4): 248- 249. 5Voss AK, Collin C, Dixon MP, Thomas T. Moz and retinoic acid coordinately regulate H3K9 acetylation, Hox gene expression, and segment identity. Dev Cell. 2009; 17(5): 674- 686. 6Kennedy J, Goudie D, Blair E, et al. KAT6A syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants. Genet Med. 2019; 21(4): 850- 860. 7Arboleda VA, Lee H, Dorrani N, et al. De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay. Am J Hum Genet. 2015; 96(3): 498- 506. 8Tham E, Lindstrand A, Santani A, et al. Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features. Am J Hum Genet. 2015; 96(3): 507- 513. 9Katsumoto T, Aikawa Y, Iwama A, et al. MOZ is essential for maintenance of hematopoietic stem cells. Genes Dev. 2006; 20(10): 1321- 1330. 10Thomas T, Corcoran LM, Gugasyan R, et al. Monocytic leukemia zinc finger protein is essential for the development of long-term reconstituting hematopoietic stem cells. Genes Dev. 2006; 20(9): 1175- 1186. 11Perez-Campo FM, Borrow J, Kouskoff V, Lacaud G. The histone acetyl transferase activity of monocytic leukemia zinc finger is critical for the proliferation of hematopoietic precursors. Blood. 2009; 113(20): 4866- 4874. Early ViewOnline Version of Record before inclusion in an issuee30417 ReferencesRelatedInformation