Re-Examining the Cochlea in Branchio-Oto-Renal Syndrome: Genotype-Phenotype Correlation

References

1. 1.↵
   1. Fraser FC,
   2. Sproule JR,
   3. Halal F

   . Frequency of the branchio-oto-renal (BOR) syndrome in children with profound hearing loss. Am J Med Genet 1980;7:341–49 doi:10.1002/ajmg.1320070316 pmid:7468659

   CrossRefPubMedWeb of Science
2. 2.↵
   1. Heimler A,
   2. Lieber E

   . Branchio-oto-renal syndrome: reduced penetrance and variable expressivity in four generations of a large kindred. Am J Med Genet 1986;25:15–27 doi:10.1002/ajmg.1320250104 pmid:3799714

   CrossRefPubMedWeb of Science
3. 3.↵
   1. Melnick M,
   2. Bixler D,
   3. Silk K, et al

   . Autosomal dominant branchiootorenal dysplasia. Birth Defects Orig Artic Ser 1975;115:121–28 pmid:1218203

   PubMed
4. 4.↵
   1. Melnick M,
   2. Bixler D,
   3. Nance WE, et al

   . Familial branchio-oto-renal dysplasia: a new addition to the branchial arch syndromes. Clin Genet 1976;9:25–34 doi:10.1111/j.1399-0004.1976.tb01546.x pmid:1248162

   CrossRefPubMedWeb of Science
5. 5.↵
   1. Chen A,
   2. Francis M,
   3. Ni L, et al

   . Phenotypic manifestations of branchio-oto-renal syndrome. Am J Med Genet 1995;58:365–70 doi:10.1002/ajmg.1320580413 pmid:8533848

   CrossRefPubMedWeb of Science
6. 6.↵
   1. Fraser FC,
   2. Ling D,
   3. Clogg D, et al

   . Genetic aspects of the BOR syndrome–branchial fistulas, ear pits, hearing loss, and renal anomalies. Am J Med Genet 1978;2:241–52 doi:10.1002/ajmg.1320020305 pmid:263442

   CrossRefPubMedWeb of Science
7. 7.↵
   1. Fitch N,
   2. Lindsay JR,
   3. Srolovitz H

   . The temporal bone in the preauricular pit, cervical fistula, hearing loss syndrome. Ann Otol Rhinol Laryngol 1976;85(2 Pt1):268–75 doi:10.1177/000348947608500212 pmid:1083706

   CrossRefPubMed
8. 8.↵
   1. Ng YY,
   2. Bellman S,
   3. Phelps PD

   . Computed tomography of earpits-deafness syndrome. Br J Radiol 1989;62:947–49 doi:10.1259/0007-1285-62-742-947 pmid:2819367

   Abstract/FREE Full Text
9. 9.↵
   1. Chang EH,
   2. Menezes M,
   3. Meyer NC, et al

   . Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences. Hum Mutat 2004;23:582–89 doi:10.1002/humu.20048 pmid:15146463

   CrossRefPubMedWeb of Science
10. 10.↵
    1. Abdelhak S,
    2. Kalatzis V,
    3. 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. Nat Genet 1997;15:157–64 doi:10.1038/ng0297-157 pmid:9020840

    CrossRefPubMedWeb of Science
11. 11.↵
    1. Kochhar A,
    2. Orten DJ,
    3. Sorensen JL, et al

    . SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BOR. Hum Mutat 2008;29:565 doi:10.1002/humu.20714 pmid:18330911

    CrossRefPubMedWeb of Science
12. 12.↵
    1. Patrick AN,
    2. Cabrera JH,
    3. Smith AL, et al

    . Structure-function analyses of the human SIX1-EYA2 complex reveal insights into metastasis and BOR syndrome. Nat Struct Mol Biol 2013;20:447–53 doi:10.1038/nsmb.2505 pmid:23435380

    CrossRefPubMed
13. 13.↵
    1. Li X,
    2. Oghi KA,
    3. Zhang J, et al

    . Eya protein phosphatase activity regulates Six1-Dach-Eya transcriptional effects in mammalian organogenesis. Nature 2003;426:247–54 doi:10.1038/nature02083 pmid:14628042

    CrossRefPubMed
14. 14.↵
    1. Krug P,
    2. Morinière V,
    3. 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. Hum Mutat 2011;32:183–90 doi:10.1002/humu.21402 pmid:21280147

    CrossRefPubMed
15. 15.↵
    1. Morisada N,
    2. Nozu K,
    3. Iijima K

    . Branchio-oto-renal syndrome: comprehensive review based on nationwide surveillance in Japan. Pediatr Int 2014;56:309–14 doi:10.1111/ped.12357 pmid:24730701

    CrossRefPubMed
16. 16.↵
    1. Unzaki A,
    2. Morisada N,
    3. Nozu K, et al

    . Clinically diverse phenotypes and genotypes of patients with branchio-oto-renal syndrome. J Hum Genet 2018;63:647–56 doi:10.1038/s10038-018-0429-8 pmid:29500469

    CrossRefPubMed
17. 17.↵
    1. Ruf RG,
    2. Berkman J,
    3. Wolf MT, et al

    . A gene locus for branchio-otic syndrome maps to chromosome 14q21.3-q24.3. J Med Genet 2003;40:515–19 doi:10.1136/jmg.40.7.515 pmid:12843324

    FREE Full Text
18. 18.↵
    1. Ruf RG,
    2. Xu PX,
    3. Silvius D, et al

    . SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. Proc Natl Acad Sci U S A 2004;101:8090–95 doi:10.1073/pnas.0308475101 pmid:15141091

    Abstract/FREE Full Text
19. 19.↵
    1. Sanggaard KM,
    2. Rendtorff ND,
    3. Kjaer KW, 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. Eur J Hum Genet 2007;15:1121–31 doi:10.1038/sj.ejhg.5201900 pmid:17637804

    CrossRefPubMedWeb of Science
20. 20.↵
    1. Hoskins BE,
    2. Cramer CH,
    3. Silvius D, et al

    . Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome. Am J Hum Genet 2007;80:800–04 doi:10.1086/513322 pmid:17357085

    CrossRefPubMedWeb of Science
21. 21.↵
    1. Ceruti S,
    2. Stinckens C,
    3. Cremers CW, et al

    . Temporal bone anomalies in the branchio-oto-renal syndrome: detailed computed tomographic and magnetic resonance imaging findings. Otol Neurotol 2002;232:200–07 doi:10.1097/00129492-200203000-00016 pmid:11875350

    CrossRefPubMed
22. 22.↵
    1. Propst EJ,
    2. Blaser S,
    3. Gordon KA, et al

    . Temporal bone findings on computed tomography imaging in branchio-oto-renal syndrome. Laryngoscope 2005;115:1855–62 doi:10.1097/01.mlg.0000177032.98386.20pmid:16222209

    CrossRefPubMed
23. 23.↵
    1. Robson CD

    . Congenital hearing impairment. Pediatr Radiol 2006;36:309–24 doi:10.1007/s00247-005-0042-9 pmid:16465539

    CrossRefPubMed
24. 24.↵
    1. Hsu A,
    2. Desai N,
    3. Paldino MJ

    . The unwound cochlea: a specific imaging marker of branchio-oto-renal syndrome. AJNR Am J Neuroradiol 2018;39:2345–49 doi:10.3174/ajnr.A5856 pmid:30385470

    Abstract/FREE Full Text
25. 25.↵
    1. Purcell D,
    2. Johnson J,
    3. Fischbein N, et al

    . Establishment of normative cochlear and vestibular measurements to aid in the diagnosis of inner ear malformations. Otolaryngol Head Neck Surg 2003;128:78–87 doi:10.1067/mhn.2003.51 pmid:12574763

    CrossRefPubMedWeb of Science
26. 26.↵
    1. Shim HJ,
    2. Shin JE,
    3. Chung JW, et al

    . Inner ear anomalies in cochlear implantees: importance of radiologic measurements in the classification. Otol Neurotol 2006;27:831–37 doi:10.1097/01.mao.0000227902.47483.ef pmid:16936569

    CrossRefPubMed
27. 27.↵
    1. D’Arco F,
    2. Talenti G,
    3. Lakshmanan R, et al

    . Do measurements of inner ear structures help in the diagnosis of inner ear malformations? A review of literature. Oto Neurotol 2017;38:e384–92 doi:10.1097/MAO.0000000000001604 pmid:29065090

    CrossRefPubMed
28. 28.↵
    1. Naganawa S,
    2. Koshikawa T,
    3. Iwayama E, et al

    . MR imaging of the enlarged endolymphatic duct and sac syndrome by use of a 3D fast asymmetric spin-echo sequence: volume and signal-intensity measurement of the endolymphatic duct and sac and area measurement of the cochlear modiolus. AJNR Am J Neuroradiol 2000;219:1664–69 pmid:11039347

    PubMed
29. 29.↵
    1. Juliano AF,
    2. Ting EY,
    3. Mingkwansook V, et al

    . Vestibular aqueduct measurements in the 45° oblique (Pöschl) plane. AJNR Am J Neuroradiol 2016;37:1331–37 doi:10.3174/ajnr.A4735 pmid:27012297

    Abstract/FREE Full Text
30. 30.↵
    1. Adunka OF,
    2. Jewells V,
    3. Buchman CA

    . Value of computed tomography in the evaluation of children with cochlear nerve deficiency. Otol Neurotol 2007;28:597–604 doi:10.1097/01.mao.0000281804.36574.72 pmid:17667769

    CrossRefPubMed
31. 31.↵
    1. Wilkins A,
    2. Prabhu SP,
    3. Huang L, et al

    . Frequent association of cochlear nerve canal stenosis with pediatric sensorineural hearing loss. Arch Otolaryngol Head Neck Surg 2012;138:383–88 doi:10.1001/archoto.2012.237 pmid:22508622

    CrossRefPubMed
32. 32.↵
    1. Stjernholm C,
    2. Muren C

    . Dimensions of the cochlear nerve canal: a radioanatomic investigation. Acta Otolaryngol 2002;122:43–48 doi:10.1080/00016480252775724 pmid:11876597

    CrossRefPubMed
33. 33.↵
    1. Henderson E,
    2. Wilkins A,
    3. Huang L, et al

    . Histopathologic investigation of the dimensions of the cochlear nerve canal in normal temporal bones. Int J Pediat Otorhinolaryngol 2011;75:464–67 doi:10.1016/j.ijporl.2010.11.024 pmid:21296431

    CrossRefPubMed
34. 34.↵
    1. Stidham KR,
    2. Roberson JB Jr..

    Cochlear hook anatomy: evaluation of the spatial relationship of the basal cochlear duct to middle ear landmarks. Acta Otolaryngol 1999;1197:773–77 doi:10.1080/00016489950180414pmid:10687934

    CrossRefPubMed
35. 35.↵
    1. Li PM,
    2. Wang H,
    3. Northrop C, et al

    . Anatomy of the round window and hook region of the cochlea with implications for cochlear implantation and other endocochlear surgical procedures. Otol Neurotol 2007;28:641–48 doi:10.1097/mao.0b013e3180577949 pmid:17667773

    CrossRefPubMed
36. 36.↵
    1. Schart-Morén N,
    2. Agrawal SK,
    3. Ladak HM, et al

    . Effects of various trajectories on tissue preservation in cochlear implant surgery: a micro-computed tomography and synchrotron radiation phase-contrast imaging study. Ear Hear 2019;40:393–400 doi:10.1097/AUD.0000000000000624 pmid:29952804

    CrossRefPubMed
37. 37.↵
    1. Kim N,
    2. Steele CR,
    3. Puria S

    . The importance of the hook region of the cochlea for bone-conduction hearing. Biophys J 2014;107:233–41 doi:10.1016/j.bpj.2014.04.052 pmid:24988357

    CrossRefPubMed
38. 38.↵
    1. Atturo F,
    2. Barbara M,
    3. Rask-Andersen H

    . On the anatomy of the “hook” region of the human cochlea and how it relates to cochlear implantation. Audiol Neurootol 2014;19:378–85 doi:10.1159/000365585 pmid:25377867

    CrossRefPubMed
39. 39.↵
    1. Talenti G,
    2. Manara R,
    3. Brotto D, et al

    . High-resolution 3 T magnetic resonance findings in cochlear hypoplasias and incomplete partition anomalies: a pictorial essay. Br J Radiol 2018;91:20180120 doi:10.1259/bjr.20180120 pmid:29688748

    CrossRefPubMed
40. 40.↵
    1. Hsu TR,
    2. Niu DM

    . Fabry disease: review and experience during newborn screening. Trends Cardiovasc Med 2018;28:274–81 doi:10.1016/j.tcm.2017.10.001 pmid:29100912

    CrossRefPubMed
41. 41.↵
    1. Smith RJ,
    2. Coppage KB,
    3. Ankerstjerne JK, et al

    . Localization of the gene for branchiootorenal syndrome to chromosome 8q. Genomics 1992;14:841–44 doi:10.1016/S0888-7543(05)80102-8 pmid:1478663

    CrossRefPubMedWeb of Science
42. 42.↵
    1. König R,
    2. Fuchs S,
    3. Dukiet C

    . Branchio-oto-renal (BOR) syndrome: variable expressivity in a five-generation pedigree. Eur J Pediatr 1994;153:446–50 doi:10.1007/BF01983410 pmid:8088301

    CrossRefPubMedWeb of Science
43. 43.↵
    1. Ni L,
    2. Wagner MJ,
    3. Kimberling WJ, et al

    . Refined localization of the branchiootorenal syndrome gene by linkage and haplotype analysis. Am J Med Genet 1994;51:176–84 doi:10.1002/ajmg.1320510222 pmid:8092199

    CrossRefPubMedWeb of Science
44. 44.↵
    1. Wang Y,
    2. Treat K,
    3. Schroer RJ, et al

    . Localization of branchio-oto-renal (BOR) syndrome to a 3 Mb region of chromosome 8q. Am J Med Genet 1994;51:169–75 doi:10.1002/ajmg.1320510221 pmid:8092198

    CrossRefPubMed
45. 45.↵
    1. Mackowetzky K,
    2. Yoon KH,
    3. Mackowetzky EJ, et al

    . Development and evolution of the vestibular apparatuses of the inner ear. J Anat 2021;239:801–28 doi:10.1111/joa.13459 pmid:34047378

    CrossRefPubMed
46. 46.↵
    1. Chatterjee S,
    2. Kraus P,
    3. Lufkin T

    . A symphony of inner ear developmental control genes. BMC Genet 2010;11:68 doi:10.1186/1471-2156-11-68 pmid:20637105

    CrossRefPubMed
47. 47.↵
    1. Zheng W,
    2. Huang L,
    3. Wei Z-B, et al

    . The role of Six1 in mammalian auditory system development. Development 2003;130:3989–4000 doi:10.1242/dev.00628 pmid:12874121

    Abstract/FREE Full Text
48. 48.↵
    1. Patrick AN,
    2. Schiemann BJ,
    3. Yang K, et al

    . Biochemical and functional characterization of six SIX1 branchio-oto-renal syndrome mutations. J Biol Chem 2009;284:20781–90 doi:10.1074/jbc.M109.016832 pmid:19497856

    Abstract/FREE Full Text