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Abstract: Branchio-oto-renal syndrome (BOR) is an autosomal dominant genetic disorder characterized by branchial fistulas, hearing impairment, renal malformations and auricular anomalies. Pathogenic mutations have been discovered in several genes such as EYA1, SIX5, and SIX1. However, it has a high penetrance with variable expressivity. The clinical and genetical heterogeneity is widespread amongst and within families. In this review, we describe the clinical manifestations and pathogenic genes with copy number variations in detail, and emphasize the criteria clinically and genetically to provide the basis for clinical diagnosis of BOR and genetic counseling.
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Key words:
- branchio-oto-renal syndrome /
- hearing impariment /
- EYA1 /
- copy number variations
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[1] FRASER F C, SPROULE J R, HALAL F. Frequency of the branchio-oto-renal (BOR) syndrome in children with profound hearing loss[J]. Am J Med Genet, 1980,7:341-349.
[2] CHEN A, FRANCIS M, NI L, et al. Phenotypic manifestations of branchio-oto-renal syndrome[J]. Am J Med Genet, 1995,58:365-370.
[3] SMITH R J, SCHWARTZ C. Branchio-oto-renal syndrome[J]. J Commun Disord, 1998, 31:411-420.
[4] SENEL E, KOCAK H, AKBIYIK F, et al. From a branchial fistula to a branchiootorenal syndrome:a case report and review of the literature[J]. J Pediatr Surg, 2009,44:623-625.
[5] FRASER F C, LING D, CLOGG D, et al. Genetic aspects of the BOR syndrome——branchial fistulas,ear pits,hearing loss, and renal anomalies[J]. Am J Med Genet,1978,2:241-252.
[6] MORISADA N, NOZU K, IIJIMA K. Branchio-oto-renal syndrome:Comprehensive review based on nationwide surveillance in Japan[J]. Pediatr Int, 2014,56:309-314.
[7] KEMPERMAN M H, STINCKENS C, Kumar S, et al. Progressive fluctuant hearing loss, enlarged vestibular aqueduct, and cochlear hypoplasia in branchio-oto-renal syndrome[J]. Otol Neurotol,2001,22:637-643.
[8] CERUTI S, STINCKENS C, CREMERS C W, et al. Temporal bone anomalies in the branchio-oto-renal syndrome:detailed computed tomographic and magnetic resonance imaging findings[J]. Otol Neurotol,2002, 23:200-207.
[9] LINDAU T, CARDOSO A, ROSSI N, et al. Anatomical Changes and Audiological Profile in Branchio-oto-renal Syndrome:A Literature Review[J]. Int Arch Otorhinolaryngol,2014,18:68-76.
[10] CERUTI S, STINCKENS C, CREMERS C W, et al. Temporal bone anomalies in the branchio-oto-renal syndrome:detailed computed tomographic and magnetic resonance imaging findings[J]. Otol Neurotol,2002,23:200-207.
[11] JANKAUSKIENE A, AZUKAITIS K. Congenital unilateral facial nerve palsy as an unusual presentation of BOR syndrome[J]. Eur J Pediatr, 2013, 172:273-275.
[12] GIGANTE M, D'ALTILIA M, MONTEMURNO E, et al. Branchio-Oto-Renal Syndrome (BOR) associated with focal glomerulosclerosis in a patient with a novel EYA1 splice site mutation[J]. BMC Nephrol,2013,14:60.
[13] AU P B, CHERNOS J E, THOMAS M A. Review of the recurrent 8q13.2q13.3 branchio-oto-renal related microdeletion, and report of an additional case with associated distal arthrogryposis[J]. Am J Med Genet A, 2016,170:2984-2987.
[14] AYÇIÇEK A, SAGLAM H, KOÇOGULLARI C U, et al. Mitral valve prolapse as a new finding in branchio-oto-renal syndrome[J]. Clin Dysmorphol, 2010,19:181-184.
[15] TAYLOR M H G, WILTON N C T. Bradycardia with sevoflurane in siblings with branchio-oto-renal syndrome[J]. Paediatr Anaesth, 2007,17:80-83.
[16] CHANG E H, MENEZES M, MEYER N C, et al. Branchio-oto-renal syndrome:The mutation spectrum inEYA1 and its phenotypic consequences[J]. Hum Mutat, 2004,23:582-589.
[17] SANCHEZ-VALLE A, WANG X, POTOCKI L, et al. HERV-mediated genomic rearrangement of EYA1 in an individual with branchio-oto-renal syndrome[J]. Am J Med Genet A, 2010,152A:2854-2860.
[18] CASTIGLIONE A, MELCHIONDA S, CARELLA M, et al. EYA1-related disorders:Two clinical cases and a literature review[J]. Int J Pediatr Otorhinolaryngol, 2014,78:1201-1210.
[19] KLINGBEIL K D, GREENLAND C M, ARSLAN S, et al. Novel EYA1 variants causing Branchio-oto-renal syndrome[J]. Int J Pediatr Otorhinolaryngol, 2017,98:59-63.
[20] KUMAR S, KIMBERLING W J, KENYON J B, et al. Autosomal dominant branchio-oto-renal syndrome——localization of a disease gene to chromosome 8q by linkage in a Dutch family[J]. Hum Mol Genet, 1992,1:491-495.
[21] 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, 1997,15:157-164.
[22] BROPHY P D, ALASTI F, DARBRO B W, et al. Genome-wide copy number variation analysis of a Branchio-oto-renal syndrome cohort identifies a recombination hotspot and implicates new candidate genes[J]. Hum Genet, 2013,132:1339-1350.
[23] KRUG P, MORINIERE V, MARLIN S, et al. Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations[J]. Hum Mutat, 2011,32:183-190.
[24] 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, 2007,80:800-804.
[25] RUF R G, XU P X, SILVIUS D, et al. SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes[J]. Proc Natl Acad Sci U S A, 2004,101:8090-8095.
[26] KLINGBEIL K D, GREENLAND C M, ARSLAN S, et al. Novel EYA1 variants causing Branchio-oto-renal syndrome[J]. Int J Pediatr Otorhinolaryngol, 2017,98:59-63.
[27] BONINI N M, LEISERSON W M, BENZER S. The eyes absent gene:genetic control of cell survival and differentiation in the developing Drosophila eye[J]. Cell, 1993,72:379-395.
[28] LIU Y, HAN N, ZHOU S, et al. The DACH/EYA/SIX gene network and its role in tumor initiation and progression[J]. Int J Cancer, 2016,138:1067-1075.
[29] LI X, OGHI K A, ZHANG J, et al. Eya protein phosphatase activity regulates Six1-Dach-Eya transcriptional effects in mammalian organogenesis[J]. Nature, 2003,426:247-254.
[30] SANGGAARD K M, RENDTORFF N D, KJAER K W, et al. Branchio-oto-renal syndrome:detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses[J]. Eur J Hum Genet, 2007,15:1121-1131.
[31] NAGANO C, NOZU K, MORISADA N, et al. Detection of copy number variations by pair analysis using next-generation sequencing data in inherited kidney diseases[J]. Clin Exp Nephrol, 2018,[Epub ahead of print].
[32] DANTAS V G L, FREITAS E L, DELLA-ROSA V A, et al. Novel partial duplication of EYA1 causes branchiootic syndrome in a large Brazilian family[J]. Int J Audiol, 2015,54:593-598.
[33] 邹明臻,朱红美,魏钦俊,等. 鳃-耳综合征一家系临床表型及遗传学特征分析[J]. 中华耳科学杂志,2015,13(1):106-109.
[34] XU P. The EYA-SO/SIX complex in development and disease[J]. Pediatr Nephrol,2013,28:843-854.
[35] BULLER C, XU X, MARQUIS V, et al. Molecular effects of Eya1 domain mutations causing organ defects in BOR syndrome[J]. Hum Mol Genet, 2001,10:2775-2781.
[36] ZOU D, ERICKSON C, KIM E H, et al. Eya1 gene dosage critically affects the development of sensory epithelia in the mammalian inner ear[J]. Hum Mol Genet, 2008,17:3340-3356.
[37] FRIEDMAN R A, MAKMURA L, BIESIADA E, et al. Eya1 acts upstream of Tbx1, Neurogenin 1, NeuroD and the neurotrophins BDNF and NT-3 during inner ear development[J]. Mech Dev, 2005,122:625-634.
[38] XU P X, ADAMS J, PETERS H, et al. Eya1-deficient mice lack ears and kidneys and show abnormal apoptosis of organ primordia[J]. Nat Genet, 1999,23:113-117.
[39] ZOU D, SILVIUS D, RODRIGO-BLOMQVIST S, et al. Eya1 regulates the growth of otic epithelium and interacts with Pax2 during the development of all sensory areas in the inner ear[J]. Dev Biol,2006,298:430-441.
[40] SAJITHLAL G, ZOU D, SILVIUS D, et al. Eya1 acts as a critical regulator for specifying the metanephric mesenchyme[J]. Dev Biol, 2005,284:323-336.
[41] KOZMIK Z, HOLLAND N D, KRESLOVA J, et al. Pax-Six-Eya-Dach network during amphioxus development:conservation in vitro but context specificity in vivo[J]. Dev Biol, 2007,306:143-159.
[42] STANKIEWICZ P, LUPSKI J R. Structural variation in the human genome and its role in disease[J]. Annu Rev Med, 2010,61:437-455.
[43] 杜仁骞,金力,张锋. 基因组拷贝数变异及其突变机理与人类疾病[J]. 遗传,2011,33(8):857-869.
[44] IAFRATE A J, FEUK L, RIVERA M N, et al. Detection of large-scale variation in the human genome[J]. Nat Genet, 2004,36:949-951.
[45] SEBAT J, LAKSHMI B, TROGE J, et al. Large-scale copy number polymorphism in the human genome[J]. Science,2004,305:525-528.
[46] REDON R, ISHIKAWA S, FITCH K R, et al. Global variation in copy number in the human genome[J]. Nature,2006,444:444-454.
[47] KOMURA D, SHEN F, ISHIKAWA S, et al. Genome-wide detection of human copy number variations using high-density DNA oligonucleotide arrays[J]. Genome Res, 2006,16:1575-1584.
[48] LUPSKI J R, STANKIEWICZ P. Genomic disorders:molecular mechanisms for rearrangements and conveyed phenotypes[J]. PLoS Genet, 2005,1:e49.
[49] ZHANG F, KHAJAVI M, CONNOLLY A M, et al. The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans[J]. Nat Genet, 2009,41:849-853.
[50] LEE J A, CARVALHO C M, LUPSKI J R. A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders[J]. Cell, 2007,131:1235-1247.
[51] DUMAS L, KIM Y H, KARIMPOUR-FARD A, et al. Gene copy number variation spanning 60 million years of human and primate evolution[J]. Genome Res, 2007,17:1266-1277.
[52] LUPSKI J R. An evolution revolution provides further revelation[J]. Bioessays, 2007,29:1182-1184.
[53] JI H, LU J, WANG J, et al. Combined examination of sequence and copy number variations in human deafness genes improves diagnosis for cases of genetic deafness[J]. BMC Ear Nose Throat Disord, 2014,14:9.
[54] CHEN X, WANG J, MITCHELL E, et al. Recurrent 8q13.2-13.3 microdeletions associated with Branchio-oto-renal syndrome are mediated by human endogenous retroviral (HERV) sequence blocks[J]. BMC Med Genet, 2014,15:90.
[55] BAMIOU D E, PHELPS P, SIRIMANNA T. Temporal bone computed tomography findings in bilateral sensorineural hearing loss[J]. Arch Dis Child, 2000, 82:257-260.
[56] PROPST E J, BLASER S, GORDON K A, et al. Temporal bone findings on computed tomography imaging in branchio-oto-renal syndrome[J]. Laryngoscope, 2005, 115:1855-62.
[57] BERTUCCI E, MAZZA V, LUGLI L, et al. Prenatal diagnosis and follow-up of a case of branchio-oto-renal syndrome displays renal growth impairment after the second trimester[J]. J Obstet Gynaecol Res, 2015, 41:1831-1834.
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