缅甸儿童白内障致病基因变异的鉴定
Identification of Genetic Variants Causing Paediatric Cataract in Myanmar.
作者信息
Jones Johanna L, Boardman Daisy, Nweni Khine, Edo Franoli, Barros de Lima Isabelly M, Lertsinpakdee Pakdhipat, Hlaing Soe, Casson Robert, Mallipatna Ashwin, Win Ye, McComish Bennet, Lin Naing, Muecke James, Griffiths Andy, Holmes Martin, Aung Than Htun, Burdon Kathryn P
机构信息
Menzies Institute for Medical Research, University of Tasmania, Hobart, Tasmania, Australia.
Yangon Eye Hospital, Yangon, Myanmar.
出版信息
Clin Genet. 2025 Oct;108(4):457-462. doi: 10.1111/cge.14755. Epub 2025 Apr 14.
Genetic testing for paediatric cataract detects a cause in 50%-70% of affected children but is as low as 20% in some reports. We screened 180 cataract-related genes in 22 children (from 20 families) with paediatric cataract from Myanmar using whole-exome sequencing. Pathogenic or likely pathogenic variants were identified in 45% (9/20) of probands in genes MIP, COL2A1, NHS, GJA8, GJA3, CRYGC, CRYBB2, PAX6 and SLC7A8. Variants of uncertain significance likely to be important were identified in three children for a maximum diagnostic rate of 12/20 probands (60%) comparable to other reports. This is the first study to examine the genetics of paediatric cataract in Myanmar.
针对小儿白内障的基因检测在50%-70%的患病儿童中能检测到病因，但在一些报告中该比例低至20%。我们使用全外显子组测序对来自缅甸的22名（来自20个家庭）患有小儿白内障的儿童的180个与白内障相关的基因进行了筛查。在MIP、COL2A1、NHS、GJA8、GJA3、CRYGC、CRYBB2、PAX6和SLC7A8基因中，45%（9/20）的先证者被鉴定出致病或可能致病的变异。在三名儿童中鉴定出可能具有重要意义的意义未明的变异，最高诊断率为12/20名先证者（60%），与其他报告相当。这是第一项研究缅甸小儿白内障遗传学的研究。
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