title: Non-ocular Stickler syndrome with a novel mutation in COL11A2 diagnosed by massively parallel sequencing in Japanese hearing loss patients.
abstract: OBJECTIVE
  This study aims to document the clinical features of patients with COL11A2 mutations and to describe the usefulness of massively parallel sequencing.
  
  
  METHODS
  One thousand one hundred twenty (1120) Japanese hearing loss patients from 53 ENT departments nationwide participated in this study. Massively parallel sequencing of 63 genes implicated in hearing loss was performed to identify the genetic causes in the Japanese hearing loss patients.
  
  
  RESULTS
  A novel mutation in COL11A2 (c.3937_3948delCCCCCAGGGCCA) was detected in an affected family, and it was segregated in all hearing loss individuals. The clinical findings of this family were compatible with non-ocular Stickler syndrome. Orofacial features of mid-facial hypoplasia and slowly progressive mild to moderate hearing loss were also presented. Audiological examinations showed favorable auditory performance with hearing aid(s).
  
  
  CONCLUSIONS
  This is the first case report of the genetic diagnosis of a non-ocular Stickler syndrome family in the Japanese population. We suggest that it is important to take both genetic analysis data and clinical symptoms into consideration to make an accurate diagnosis.
authors.affiliation: Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan.
authors.forename: Yoh-Ichiro
authors.initials: Y
authors.lastname: Iwasa
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: Hideaki
authors.initials: H
authors.lastname: Moteki
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.
authors.forename: Ririko
authors.initials: R
authors.lastname: Sato
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 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: D001168:Arthritis; D002648:Child; D003095:Collagen Diseases / Q000235:genetics; D024161:Collagen Type XI / Q000235:genetics*; D003240:Connective Tissue Diseases; D005260:Female; D016368:Frameshift Mutation; D034381:Hearing Loss / Q000235:genetics*; D006319:Hearing Loss, Sensorineural; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D012163:Retinal Detachment
chemical_list: C499319:COL11A2 protein, human; D024161:Collagen Type XI
keywords: COL11A2; Stickler syndrome; autosomal dominant; genetics; hearing loss; massively parallel sequencing