一个鳃耳综合征家系EYA1基因新的无义突变的鉴定及遗传学分析
Identification and genetic analysis of a novel nonsense variant in EYA1 gene in a family with branchio-otic syndrome
李琼;梁鹏飞;王淑娟;李薇;王剑;邱建华;查定军
1:中国人民解放军空军军医大学第一附属医院耳鼻咽喉头颈外科
摘要关键词基金项目(Foundation):作者参考文献[1] ABDELHAK S,KALATZIS V,HEILIG R,et al.A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family[J].Nat Genet,1997,15(2):157-164.
[2] RUF R G,BERKMAN J,WOLF M T,et al.A gene locus for branchio-otic syndrome maps to chromosome 14q21.3-q24.3[J].J Med Genet,2003,40(7):515-519.
[3] MOODY S A,NEILSON K M,KENYON K L,et al.Using xenopus to discover new genes involved in branchiootorenal spectrum disorders[J].Comp Biochem Physiol C Toxicol Pharmacol,2015,178:16-24.
[4] BOUCHER C A,KING S K,CAREY N,et al.A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeat[J].Hum Mol Genet,1995,4(10):1919-1925.
[5] HOSKINS B E,CRAMER C H,SILVIUS D,et al.Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome[J].Am J Hum Genet,2007,80(4):800-804.
[6] 梁鹏飞，王淑娟，王剑，等.陕西省800例非综合征型聋患者常见致聋基因突变分析[J].听力学及言语疾病杂志，2015,23(1):11-15.
[7] RICHARDS S,AZIZ N,BALE S,et al.Standards and guidelines for the interpretation of sequence variants:a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology[J].Genet Med,2015,17(5):405-424.
[8] KENT W J.BLAT—the BLAST-like alignment tool[J].Genome Res,2002,12(4):656-664.
[9] KOCHHAR A,ORTEN D J,SORENSEN J L,et al.SIX1 mutation screening in 247 branchio-oto-renal syndrome families:a recurrent missense mutation associated with BOR[J].Hum Mutat,2008,29(4):565.
[10] UNZAKI A,MORISADA N,NOZU K,et al.Clinically diverse phenotypes and genotypes of patients with branchio-oto-renal syndrome[J].J Hum Genet,2018,63(5):647-656.
[11] MORISADA N,NOZU K,IIJIMA K.Branchio-oto-renal syndrome:comprehensive review based on nationwide surveillance in Japan[J].Pediatr Int,2014,56(3):309-314.
[12] 袁斌，曾敏，李熔，等.EYA基因家族的研究进展[J].军事医学科学院院刊，2007(1):87-90.
[13] MEN M,LI W,CHEN H,et al.Identification of a novel CNV at 8q13 in a family with branchio-oto-renal syndrome and epilepsy[J].Laryngoscope,2020,130(2):526-532.
[14] CHEN P,LIU H,LIN Y,et al.EYA1 mutations leads to branchio-oto syndrome in two Chinese Han deaf families[J].Int J Pediatr Otorhinolaryngol,2019,123:141-145.
[15] MUTSUDDI M,CHAFFEE B,CASSIDY J,et al.Using drosophila to decipher how mutations associated with human branchio-oto-renal syndrome and optical defects compromise the protein tyrosine phosphatase and transcriptional functions of eyes absent[J].Genetics,2005,170(2):687-695.