参考文献/References:
[1]丛日昌,韩丽川,宋书娟.PAX6基因突变至先天性无虹膜一家系的临床相关性研究[J].眼科新进展,2008(11):829-831,849.[2]张陆希.中国一先天性无虹膜家系基因突变位点的测序及遗传分析[D].郑州:郑州大学,2017.[3]Luo F,Zhou L,Ma X,et al.Mutation analysis of PAX6 in a Chinese family and a patient with a presumed sporadic case of congenital aniridia[J].Ophthalmic Res,2012,47(1):27-31.[4]Cao X,Zhou XM,Gan R,et al.A novel mutation of PAX6 identified in a Chinese twin family with congenital aniridia complicated with nystagmus[J].Genet Mol Res,2014,13(4):8679-8685.[5]Zhang R,Linpeng S,Wei X,et al.Novel variants in PAX6 gene caused congenital aniridia in two Chinese families[J].Eye (Lond),2017,31(6):956-961.[6]Lin Y,Gao H,Zhu Y,et al.Two Paired Box 6 mutations identified in Chinese patients with classic congenital aniridia and cataract[J].Mol Med Rep,2018,18(5):4439-4445.[7]Zhuang J,Chen X,Tan Z,et al.A novel de novo duplication mutation of PAX6 in a Chinese family with aniridia and other ocular abnormalities[J].Sci Rep,2014(4):4836.[8]Ying M,Han R,Hao P,et al.Inherited KIF21A and PAX6 gene mutations in a boy with congenital fibrosis of extraocular muscles and aniridia[J].BMC Med Genet,2013(14):63.[9]Qiu JJ,Zhang Q,Geng ZX,et al.Identification of a novel PAX6 mutation in a Chinese family with aniridia[J].BMC Ophthalmol,2019,19(1):10.[10]Wawrocka A,Budny B,Debicki S,et al.PAX6 3’ deletion in a family with aniridia[J].Ophthalmic Genet,2012,33(1):44-48.[11]Sonoda S,Isashiki Y,Tabata Y,et al.A novel PAX6 gene mutation (P118R) in a family with congenital nystagmus associated with a variant form of aniridia[J].Graefes Arch Clin Exp Ophthalmol,2000,238(7):552-558.[12]Goswami S,Gupta V,Srivastava A,et al.A novel duplication in the PAX6 gene in a North Indian family with aniridia[J].Int Ophthalmol,2014,34(6):1183-1188.[13]Bai Z,Kong X.Extension of the mutation spectrum of PAX6 from three Chinese congenital aniridia families and identification of male gonadal mosaicism[J].Mol Genet Genomic Med,2018,6(6):1053-1067.[14]Pérez-Solórzano S,Chacón-Camacho OF,AstiazaránMC,et al.PAX6 allelic heterogeneity in Mexican congenital aniridia patients: expanding the mutational spectrum with seven novel pathogenic variants[J].Clin Exp Ophthalmol,2017,45(9):875-883.[15]Lin Y,Gao H,Zhu Y,et al.Two Paired Box 6 mutations identified in Chinese patients with classic congenital aniridia and cataract[J].Mol Med Rep,2018,18(5):4439-4445. [16]Park SH,Kim MS,Chae H,et al.Molecular analysis of the PAX6 gene for congenital aniridia in the Korean population: identification of four novel mutations[J].Mol Vis,2012(18):488-494.[17]Sale MM,Craig JE,Charlesworth JC,et al.Broad phenotypic variability in a single pedigree with a novel 1410delC mutation in the PST domain of the PAX6 gene[J].Hum Mutat,2002,20(4):322.[18]张钏,郝胜菊,张庆华,等.PAX6基因新突变导致先天性无虹膜一例[J].中华医学遗传学杂志,2019,36(6):616-619.[19]陈靖,朱思泉.先天性无虹膜合并先天性白内障家系致病基因突变分析[J].国际眼科杂志,2019,19(8):1396-1399.[20]Cai F,Zhu J,Chen W,et al.A novel PAX6 mutation in a large Chinese family with aniridia and congenital cataract[J].Mol Vis,2010(16):1141-1145.[21]Han KH,Lee HJ,Ha IS,et al.A nonsense PAX6 mutation in a family with congenital aniridia[J].Korean J Pediatr,2016,59(Suppl 1):S1-S4.[22]Giray Bozkaya O,Ataman E,Aksel Kilicarslan O,et al.Identification of a novel frameshift heterozygous deletion in exon8 of the PAX6 gene in a pedigree with aniridia[J].Mol Med Rep,2016,14(3):2150-2154.[23]Liu Q,Wan W,Liu Y,et al.A novel PAX6 deletion in a Chinese family with congenital aniridia[J].Gene,2015,563(1):41-44.[24]Zhang X,Tong Y,Xu W.et al.Two novel mutations of the PAX6 gene causing different phenotype in a cohort of Chinese patients[J].Eye (Lond),2011,25(12):1581-1589.[25]Shukla S,Mishra R.Predictions on impact of missense mutations on structure function relationship of PAX6 and its alternatively spliced isoform PAX6(5a)[J].Interdiscip Sci,2012,4(1):54-73.[26]Zhang X,Qin G,Chen G,et al.Variants in TRIM44 Cause Aniridia by Impairing PAX6 Expression[J].Hum Mutat,2015,36(12):1164-1167.[27]Chen JH,Lin W,Sun G,et al.A novel PAX6 deletion in a Chinese family with congenital aniridia[J].Mol Vis,2012(18):989-995.[28]Jin C,Wang Q,Li J,et al.A recurrent PAX6 mutation is associated with aniridia and congenital progressive cataract in a Chinese family[J].Mol Vis,2012(18):465-470.[29]Chao LY,Mishra R,Strong LC,et al.Missense mutations in the DNA-binding region and termination codon in PAX6[J].Hum Mutat,2003,21(2):138-145.[30]Liu X,Wu Y,Miao Z,et al.A novel deletion downstream of the PAX6 gene identified in a Chinese family with congenital aniridia[J].Ophthalmic Genet,2018,39(4):428-436.[31]He F,Liu DL,Chen MP,et al.A rare PAX6 mutation in a Chinese family with congenital aniridia[J].Genet Mol Res,2015,14(4):13328-13336.[32]Beby F,Dieterich K,Calvas P.A [c.566-2A>G] heterozygous mutation in the PAX6 gene causes aniridia with mild visual impairment[J].Eye (Lond),2011,25(5):657-658.[33]Syrimis A,Nicolaou N,Alexandrou A,et al.Molecular analysis of Cypriot families with aniridia reveals a novel PAX6 mutation[J].Mol Med Rep,2018,18(2):1623-1627.[34]Zhang Y,Ding J,Wang S,et al.Reassessing the pathogenicity of c.2858G>T(p.(G953V)) in COL4A5 Gene: report of 19 Chinese families[J].Eur J Hum Genet,2020,28(2):244-252.[35]耿仁芳,郑洁,周青,等.先天性无虹膜家系致病基因的突变检测[J].安徽医科大学学报,2015,50(9):1312-1315.[36]Lee PC,Lam HH,Ghani SA,et al.Investigation of a PAX6 gene mutation in a Malaysian family with congenital aniridia[J].Genet Mol Res,2014,13(2):3553-3559.[37]Liu Q,Wan W,Liu Y,et al.A novel PAX6 deletion in a Chinese family with congenital aniridia[J].Gene,2015,563(1):41-44.[38]Huang L,Li W,Tang W,et al.A Chinese family with Oguchi’s disease due to compound heterozygosity including a novel deletion in the arrestin gene[J].Mol Vis,2012(18):528-536.[39]董世栖,董素芳,乔晨,等.PAX6基因突变的鉴定与中国家系无虹膜症合并妊娠期糖尿病的产前诊断[J].国际眼科杂志,2019,19(9):1457-1461.[40]肖紫云,邢怡桥.土家族中一个先天性无虹膜家系的临床特点和PAX6基因突变位点分析[J].中华眼视光学与视觉科学杂志,2018,20(2):109-113.[41]Ewans LJ,Schofield D,Shrestha R,et al.Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders[J].Genet Med,2018,20(12):1564-1574.[42]Kaiwar C,Kruisselbrink TM,Kudva YC,et al.Exome sequencing confirms diagnosis of kabuki syndrome in an-adult with hodgkin lymphoma and unusually severe multisystem phenotype[J].Clin Immunol,2019(207):55-57.[43]Duerinckx S,Jacquemin V,Drunat S,et al.Digenic inheritance of human primary microcephaly delineates centrosomal and non-centrosomal pathways[J].Hum Mutat,2020,41(2):512-524.[44]Fan LL,Liu JS,Huang H,et al.Whole exome sequencing identified a novel mutation (p.Ala1884Pro) of β-spectrin in a Chinese family with hereditary spherocytosis[J].J Gene Med,2019,21(2-3):e3073.[45]Fan KH,Feingold E,Rosenthal SL,et al.Whole-Exome Sequencing Analysis of Alzheimer’s Disease in Non-APOE*4 Carriers[J].J Alzheimers Dis,2020,76(4):1553-1565.