[1] Alazami AM, Hijazi H,Al-Dosari MS,et al.Mutation in ADAT3,encoding adenosine deaminase acting on transfer RNA,causes intellectual disability and strabismus[J].J Med Genet,2013,50(7):425-430.
[2] Gerber AP,Keller W.An adenosine deaminase that generates inosine at the wobble position of tRNAs[J].Science,1999,286(5442):1146-1149.
[3] Thomas E,Lewis AM,Yang Y,et al.Novel missense variants in ADAT3 as a cause of syndromic intellectual disability[J].J Pediatr Genet,2019,8(4):244-251.
[4] Schaub M, Keller W.RNA editing by adenosine deaminases generates RNA and protein diversity[J].Biochimie,2002,84(8):791-803.
[5] Ramos J,Han L,Li Y, et al.Formation of tRNA wobble inosine in humans is disrupted by a millennia-old mutation causing intellectual disability[J].Mol Cell Biol,2019,39(19):e00203-19.
[6] Rafels-Ybern A,Attolini CS,Ribas DPL.Distribution of ADAT-Dependent Codons in the human transcriptome[J].Int J Mol Sci,2015,16(8):17303-17314.
[7] Rafels-Ybern À,Torres AG,Grau-Bove X,et,al.Codon adaptation to tRNAs with Inosine modification at position 34 is widespread among Eukaryotes and present in two Bacterial phyla[J]. RNA Biol, 2018,15(4-5):500-507.
[8] El-Hattab AW,Saleh MA,Hashem A,et al.ADAT3-related intellectual disability:Further delineation of the phenotype[J].Am J Med Genet A,2016,170A(5):1142-1147.
[9] Sharkia R,Zalan A,Jabareen-Masri A,et al.A new case confirming and expanding the phenotype spectrum of ADAT3-related intellectual disability syndrome[J].Eur J Med Genet,2019,62(11):103549.
[10] Salehi Chaleshtori AR,Miyake N,Ahmadvand M,et al.A novel 8-bp duplication in ADAT3 causes mild intellectual disability[J]. Hum Genome Var,2018,5(1):3-7.
[11] 中华儿科杂志编辑委员会.全基因组测序在遗传病检测中的临床应用专家共识[J]. 中华儿科杂志,2019,57(6):419-423.
[12] 中华儿科杂志编辑委员会.儿童遗传病遗传检测临床应用专家共识[J]. 中华儿科杂志,2019,57(3):172-176. |
