title: Nonsyndromic hearing loss caused by USH1G mutations: widening the USH1G disease spectrum.
abstract: OBJECTIVE
  Currently, six genes are known to be associated with Usher syndrome type I, and mutations in most of these genes can also cause nonsyndromic hearing loss. The one exception is USH1G, which is currently only known to be involved in Usher syndrome type I and atypical Usher syndrome.
  
  
  METHODS
  A Dutch family with autosomal recessively inherited hearing loss was examined. Audiometric, ophthalmic, and vestibular evaluations were performed besides the genetic analysis.
  
  
  RESULTS
  The hearing loss had an early onset with a downsloping audiogram configuration. Slight progression of the hearing loss was seen in both affected individuals. Compound heterozygous mutations in USH1G were found to segregate with the hearing loss in this family, a missense (c.310A>G, p.Met104Val) and a frameshift mutation (c.780insGCAC, p.Tyr261Alafs*96). Extensive ophthalmic and vestibular examinations demonstrated no abnormalities that are usually associated with Usher syndrome type I.
  
  
  CONCLUSIONS
  This is the first family presented with nonsyndromic hearing loss caused by mutations in USH1G. Our findings expand the phenotypic spectrum of mutations in USH1G.
authors.affiliation: 1Department of Otorhinolaryngology, Hearing and Genes, Radboud University Medical Center, Nijmegen, The Netherlands; 2Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands; 3Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands; 4Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands; 5Centre for Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen, The Netherlands; and 6Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
authors.forename: Anne Marthe
authors.initials: AM
authors.lastname: Maria Oonk
authors.forename: Ramon A C
authors.initials: RA
authors.lastname: van Huet
authors.forename: Joop M
authors.initials: JM
authors.lastname: Leijendeckers
authors.forename: Jaap
authors.initials: J
authors.lastname: Oostrik
authors.forename: Hanka
authors.initials: H
authors.lastname: Venselaar
authors.forename: Erwin
authors.initials: E
authors.lastname: van Wijk
authors.forename: Andy
authors.initials: A
authors.lastname: Beynon
authors.forename: Henricus P M
authors.initials: HP
authors.lastname: Kunst
authors.forename: Carel B
authors.initials: CB
authors.lastname: Hoyng
authors.forename: Hannie
authors.initials: H
authors.lastname: Kremer
authors.forename: Margit
authors.initials: M
authors.lastname: Schraders
authors.forename: Ronald J E
authors.initials: RJ
authors.lastname: Pennings
mesh_terms: D001301:Audiometry, Pure-Tone; D005260:Female; D016368:Frameshift Mutation; D006319:Hearing Loss, Sensorineural / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D052245:Usher Syndromes / Q000235:genetics
chemical_list: D009419:Nerve Tissue Proteins; C477452:USH1G protein, human