基因KAT6A新发突变致发育迟缓伴特殊面容1例及文献回顾
摘要
<正>目前全球儿童发育迟缓(developmental delay, DD)发生率大约为1%～3%。DD作为一个十分重要的公共健康问题,其病因复杂。大量全基因测序研究结果表明新生杂合单基因突变是导致不同智力障碍综合症的主要原因。近年来多项研究显示,KAT6A基因突变与全面发育迟缓发生有关。此类患者主要表现为全面发育迟缓伴特殊面容,先天性心脏病,皮质视觉障碍等[1-3]。目前国内尚无基因KAT6A突变相关报道。本文将对KAT6A基因新发突变所致
引文
[1] Trinh J, Hüning I, Yüksel Z, et al.A KAT6A variant in a family with autosomal dominantly inherited microcephaly and developmental delay[J].J Hum Genet, 2018,63,997-1001.
[2] Arboleda 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[J].Am J Hum Genet, 2015,96(3):498-506.
[3] Tham E, Lindstrand A, Santani A, et al.Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features[J].Am J Hum Genet, 2015,96(3):507-513.
[4] Champagne N, Pelletier N, Yang XJ.The monocytic leukemia zinc finger protein MOZ is a histone acetyltransferase[J].Oncogene, 2001,20(3):404-409.
[5] Sapountzi V, C?té J.MYST-family histone acetyltransferases:beyond chromatin[J].Cell Mol Life Sci, 2011,68(7):1147-1156.
[6] Borrow J, Stanton JV, Andresen JM, et al.The translocation t(8;16)(p11;p13) of acute myeloid leukaemia fuses a putative acetyltransferase to the CREB-binding protein[J].Nat Genet, 1996,14(1):33-41.
[7] Voss AK, Collin C, Dixon MP, et al.Moz and Retinoic acid coordinately regulate H3K9 acetylation, gene expression, and segment identity[J].Dev Cell, 2009,17(5):674.
[8] Kong Y, Grimaldi M, Curtin E, et al.Neural crest development and craniofacial morphogenesis Is coordinated by nitric oxide and histone acetylation[J].Chem Biol, 2014,21(4):488-501.
[9] Falkenberg KJ, Johnstone RW.Histone deacetylases and their inhibitors in cancer, neurological diseases and immune disorders[J].Nat Rev Drug Discov, 2014,13(9):673-691.
[10] Mahgoub M, Monteggia LM.A role for histone deacetylases in the cellular and behavioral mechanisms underlying learning and memory[J].Learn Mem, 2014,21(10):564-568.
[2] Arboleda 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[J].Am J Hum Genet, 2015,96(3):498-506.
[3] Tham E, Lindstrand A, Santani A, et al.Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features[J].Am J Hum Genet, 2015,96(3):507-513.
[4] Champagne N, Pelletier N, Yang XJ.The monocytic leukemia zinc finger protein MOZ is a histone acetyltransferase[J].Oncogene, 2001,20(3):404-409.
[5] Sapountzi V, C?té J.MYST-family histone acetyltransferases:beyond chromatin[J].Cell Mol Life Sci, 2011,68(7):1147-1156.
[6] Borrow J, Stanton JV, Andresen JM, et al.The translocation t(8;16)(p11;p13) of acute myeloid leukaemia fuses a putative acetyltransferase to the CREB-binding protein[J].Nat Genet, 1996,14(1):33-41.
[7] Voss AK, Collin C, Dixon MP, et al.Moz and Retinoic acid coordinately regulate H3K9 acetylation, gene expression, and segment identity[J].Dev Cell, 2009,17(5):674.
[8] Kong Y, Grimaldi M, Curtin E, et al.Neural crest development and craniofacial morphogenesis Is coordinated by nitric oxide and histone acetylation[J].Chem Biol, 2014,21(4):488-501.
[9] Falkenberg KJ, Johnstone RW.Histone deacetylases and their inhibitors in cancer, neurological diseases and immune disorders[J].Nat Rev Drug Discov, 2014,13(9):673-691.
[10] Mahgoub M, Monteggia LM.A role for histone deacetylases in the cellular and behavioral mechanisms underlying learning and memory[J].Learn Mem, 2014,21(10):564-568.