title: Germinal mosaicism in a family with BO syndrome.
abstract: OBJECTIVE
  To clarify the existence of germinal mosaicism, we performed a genetic analysis of 2 siblings identified with an EYA1 mutation associated with branchiooto (BO) syndrome but who were born from normal parents.
  
  
  METHODS
  Detailed data from the 2 affected siblings were collected for clinical diagnosis, with haplotype analysis also performed to prove germinal mosaicism.
  
  
  RESULTS
  The 2 sisters showed characteristic clinical features of BO syndrome (middle and inner ear anomalies, microtia, and auditory canal stenosis/atresia). Haplotype analysis confirmed the genetic relationship between the affected sisters and their parents. The younger sister with auditory canal atresia received a bone-anchored hearing aid (Baha), a transcutaneous bone conduction hearing device, resulting in a good hearing outcome.
  
  
  CONCLUSIONS
  Based on the results of haplotype analysis, we proved that the BO syndrome in these cases was caused by germinal mosaicism of the EYA1 gene in either the mother or father. We also demonstrated that the bone-conduction hearing implant is a good option for BO patients with complex outer, middle, and inner ear anomalies.
authors.affiliation: Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan.
authors.forename: Maiko
authors.initials: M
authors.lastname: Miyagawa
authors.affiliation: Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan.
authors.forename: Shin-Ya
authors.initials: SY
authors.lastname: Nishio
authors.affiliation: Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan.
authors.forename: Mitsuru
authors.initials: M
authors.lastname: Hattori
authors.affiliation: Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan.
authors.forename: Yutaka
authors.initials: Y
authors.lastname: Takumi
authors.affiliation: Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan usami@shinshu-u.ac.jp.
authors.forename: Shin-Ichi
authors.initials: S
authors.lastname: Usami
mesh_terms: D000328:Adult; D019280:Branchio-Oto-Renal Syndrome / Q000235:genetics*; D005260:Female; D006239:Haplotypes; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D009030:Mosaicism; D009687:Nuclear Proteins / Q000235:genetics*; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*; D013701:Temporal Bone / Q000000981:diagnostic imaging; D014057:Tomography, X-Ray Computed
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; D009687:Nuclear Proteins; C104381:EYA1 protein, human; D017027:Protein Tyrosine Phosphatases
keywords: Baha; EYA1; bronchiootorenal syndrome; germinal mosaicism; next generation sequencing