Abadie V, Wiener-Vacher S, Morisseau-Durand MP, Poree C, Amiel J, Amanou L, Peigne C, Lyonnet S, Manac’h Y (2000) Vestibular anomalies in CHARGE syndrome: investigations on and consequences for postural development. Eur J Pediatr 159:569–574

Article  CAS  PubMed  Google Scholar 

Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR (2010) A method and server for predicting damaging missense mutations. Nat Methods 7:248–249. https://doi.org/10.1038/nmeth0410-248

Article  CAS  PubMed  PubMed Central  Google Scholar 

Allen MD, Religa TL, Freund SM, Bycroft M (2007) Solution structure of the BRK domains from CHD7. J Mol Biol 371:1135–1140. https://doi.org/10.1016/j.jmb.2007.06.007

Article  CAS  PubMed  Google Scholar 

Ashkenazy H, Abadi S, Martz E, Chay O, Mayrose I, Pupko T, Ben-Tal N (2016) ConSurf 2016: an improved methodology to estimate and visualize evolutionary conservation in macromolecules. Nucleic Acids Res 44:W344–W350. https://doi.org/10.1093/nar/gkw408

Article  CAS  PubMed  PubMed Central  Google Scholar 

Bademci G, Cengiz FB, Foster Ii J, Duman D, Sennaroglu L, Diaz-Horta O, Atik T, Kirazli T, Olgun L, Alper H, Menendez I, Loclar I, Sennaroglu G, Tokgoz-Yilmaz S, Guo S, Olgun Y, Mahdieh N, Bonyadi M, Bozan N, Ayral A, Ozkinay F, Yildirim-Baylan M, Blanton SH, Tekin M (2016) Variations in multiple syndromic deafness genes mimic non-syndromic hearing loss. Sci Rep 6:31622. https://doi.org/10.1038/srep31622

Article  CAS  PubMed  PubMed Central  Google Scholar 

Balendran V, Skidmore JM, Ritter KE, Gao J, Cimerman J, Beyer LA, Hurd EA, Raphael Y, Martin DM (2021) Chromatin remodeler CHD7 is critical for cochlear morphogenesis and neurosensory patterning. Dev Biol 477:11–21. https://doi.org/10.1016/j.ydbio.2021.05.009

Article  CAS  PubMed  PubMed Central  Google Scholar 

Bedeschi MF, Crippa BL, Colombo L, Buscemi M, Rossi C, Villa R, Gangi S, Picciolini O, Cinnante C, Fergnani VGC, Ajmone PF, Scola E, Triulzi F, Mosca F (2020) A case series of CHARGE syndrome: identification of key features for a neonatal diagnosis. Ital J Pediatr 46:53. https://doi.org/10.1186/s13052-020-0806-8

Article  PubMed  PubMed Central  Google Scholar 

Bergman JE, de Ronde W, Jongmans MC, Wolffenbuttel BH, Drop SL, Hermus A, Bocca G, Hoefsloot LH, van Ravenswaaij-Arts CM (2012a) The results of CHD7 analysis in clinically well-characterized patients with Kallmann syndrome. J Clin Endocrinol Metab 97:E858–E862. https://doi.org/10.1210/jc.2011-2652

Article  CAS  PubMed  Google Scholar 

Bergman JE, Janssen N, van der Sloot AM, de Walle HE, Schoots J, Rendtorff ND, Tranebjaerg L, Hoefsloot LH, van Ravenswaaij-Arts CM, Hofstra RM (2012b) A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome. Hum Mutat 33:1251–1260. https://doi.org/10.1002/humu.22106

Article  CAS  PubMed  Google Scholar 

Blake KD, Davenport SL, Hall BD, Hefner MA, Pagon RA, Williams MS, Lin AE, Graham JM Jr (1998) CHARGE association: an update and review for the primary pediatrician. Clin Pediatr (phila) 37:159–173. https://doi.org/10.1177/000992289803700302

Article  CAS  PubMed  Google Scholar 

Bosman EA, Penn AC, Ambrose JC, Kettleborough R, Stemple DL, Steel KP (2005) Multiple mutations in mouse Chd7 provide models for CHARGE syndrome. Hum Mol Genet 14:3463–3476. https://doi.org/10.1093/hmg/ddi375

Article  CAS  PubMed  Google Scholar 

Chattaraj P, Munjal T, Honda K, Rendtorff ND, Ratay JS, Muskett JA, Risso DS, Roux I, Gertz EM, Schaffer AA, Friedman TB, Morell RJ, Tranebjaerg L, Griffith AJ (2017) A common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct. J Med Genet 54:665–673. https://doi.org/10.1136/jmedgenet-2017-104721

Article  CAS  PubMed  Google Scholar 

Choi BY, Madeo AC, King KA, Zalewski CK, Pryor SP, Muskett JA, Nance WE, Butman JA, Brewer CC, Griffith AJ (2009a) Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes. J Med Genet 46:856–861. https://doi.org/10.1136/jmg.2009.067892

Article  CAS  PubMed  Google Scholar 

Choi BY, Stewart AK, Madeo AC, Pryor SP, Lenhard S, Kittles R, Eisenman D, Kim HJ, Niparko J, Thomsen J, Arnos KS, Nance WE, King KA, Zalewski CK, Brewer CC, Shawker T, Reynolds JC, Butman JA, Karniski LP, Alper SL, Griffith AJ (2009b) Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms? Hum Mutat 30:599–608. https://doi.org/10.1002/humu.20884

Article  CAS  PubMed  PubMed Central  Google Scholar 

da Costa MR, Knoll RM, de Oliveira PN, Song G, Santos F, Paparella MM, Cureoglu S (2022) Otopathologic abnormalities in CHARGE syndrome. Otolaryngol Head Neck Surg 166:363–372. https://doi.org/10.1177/01945998211008911

Article  Google Scholar 

Delahaye A, Sznajer Y, Lyonnet S, Elmaleh-Berges M, Delpierre I, Audollent S, Wiener-Vacher S, Mansbach AL, Amiel J, Baumann C, Bremond-Gignac D, Attie-Bitach T, Verloes A, Sanlaville D (2007) Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability. Clin Genet 72:112–121. https://doi.org/10.1111/j.1399-0004.2007.00821.x

Article  CAS  PubMed  Google Scholar 

Enerback S, Nilsson D, Edwards N, Heglind M, Alkanderi S, Ashton E, Deeb A, Kokash FEB, Bakhsh ARA, Van’t Hoff W, Walsh SB, D’Arco F, Daryadel A, Bourgeois S, Wagner CA, Kleta R, Bockenhauer D, Sayer JA (2018) Acidosis and deafness in patients with recessive mutations in FOXI1. J Am Soc Nephrol 29:1041–1048. https://doi.org/10.1681/ASN.2017080840

Article  PubMed  Google Scholar 

Everett LA, Glaser B, Beck JC, Idol JR, Buchs A, Heyman M, Adawi F, Hazani E, Nassir E, Baxevanis AD, Sheffield VC, Green ED (1997) Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat Genet 17:411–422. https://doi.org/10.1038/ng1297-411

Article  CAS  PubMed  Google Scholar 

Farnung L, Vos SM, Wigge C, Cramer P (2017) Nucleosome-Chd1 structure and implications for chromatin remodelling. Nature 550:539–542. https://doi.org/10.1038/nature24046

Article  CAS  PubMed  PubMed Central  Google Scholar 

Griffith AJ, Wangemann P (2011) Hearing loss associated with enlargement of the vestibular aqueduct: mechanistic insights from clinical phenotypes, genotypes, and mouse models. Hear Res 281:11–17. https://doi.org/10.1016/j.heares.2011.05.009

Article  PubMed  PubMed Central  Google Scholar 

Hale CL, Niederriter AN, Green GE, Martin DM (2016) Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria. Am J Med Genet A 170A:344–354. https://doi.org/10.1002/ajmg.a.37435

Article  CAS  PubMed  Google Scholar 

Hauk G, McKnight JN, Nodelman IM, Bowman GD (2010) The chromodomains of the Chd1 chromatin remodeler regulate DNA access to the ATPase motor. Mol Cell 39:711–723. https://doi.org/10.1016/j.molcel.2010.08.012

Article  CAS  PubMed  PubMed Central  Google Scholar 

Hildebrand A, Remmert M, Biegert A, Soding J (2009) Fast and accurate automatic structure prediction with HHpred. Proteins 77(Suppl 9):128–132. https://doi.org/10.1002/prot.22499

Article  CAS  PubMed  Google Scholar 

Hoch MJ, Patel SH, Jethanamest D, Win W, Fatterpekar GM, Roland JT Jr, Hagiwara M (2017) Head and neck MRI findings in CHARGE syndrome. AJNR Am J Neuroradiol 38:2357–2363. https://doi.org/10.3174/ajnr.A5297

Article  CAS  PubMed  PubMed Central  Google Scholar 

Honda K, Kim SH, Kelly MC, Burns JC, Constance L, Li X, Zhou F, Hoa M, Kelley MW, Wangemann P, Morell RJ, Griffith AJ (2017) Molecular architecture underlying fluid absorption by the developing inner ear. Elife. https://doi.org/10.7554/eLife.26851

Article  PubMed  PubMed Central  Google Scholar 

Honda K, Lee HJ, Griffith AJ, Roux I (2021) Dissection of the endolymphatic sac from mice. J vis Exp. https://doi.org/10.3791/62375

Article  PubMed  Google Scholar 

Hultcrantz M, Bagger-Sjoback D, Rask-Andersen H (1987) The development of the endolymphatic duct and sac. A light microscopical study. Acta Otolaryngol 104:406–416. https://doi.org/10.3109/00016488709128268

Article  CAS  PubMed  Google Scholar 

Hurd EA, Capers PL, Blauwkamp MN, Adams ME, Raphael Y, Poucher HK, Martin DM (2007) Loss of Chd7 function in gene-trapped reporter mice is embryonic lethal and associated with severe defects in multiple developing tissues. Mamm Genome 18:94–104. https://doi.org/10.1007/s00335-006-0107-6

Article  CAS  PubMed  Google Scholar 

Hurd EA, Poucher HK, Cheng K, Raphael Y, Martin DM (2010) The ATP-dependent chromatin remodeling enzyme CHD7 regulates pro-neural gene expression and neurogenesis in the inner ear. Development 137:3139–3150. https://doi.org/10.1242/dev.047894

Article  CAS  PubMed  PubMed Central  Google Scholar 

Hurd EA, Adams ME, Layman WS, Swiderski DL, Beyer LA, Halsey KE, Benson JM, Gong TW, Dolan DF, Raphael Y, Martin DM (2011) Mature middle and inner ears express Chd7 and exhibit distinctive pathologies in a mouse model of CHARGE syndrome. Hear Res 282:184–195. https://doi.org/10.1016/j.heares.2011.08.005

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ioannidis NM, Rothstein JH, Pejaver V, Middha S, McDonnell SK, Baheti S, Musolf A, Li Q, Holzinger E, Karyadi D, Cannon-Albright LA, Teerlink CC, Stanford JL, Isaacs WB, Xu J, Cooney KA, Lang