title: Proximal symphalangism, hyperopia, conductive hearing impairment, and the NOG gene: 2 new mutations.
abstract: OBJECTIVE
  To report on 2 families with proximal symphalangism syndrome and 2 new NOG gene mutations and to report on the outcomes of exploratory tympanotomy.
  
  
  METHODS
  Retrospective chart study.
  
  
  METHODS
  Tertiary referral center.
  
  
  METHODS
  A total of 6 patients, one of which underwent an exploratory tympanotomy, were examined from 2 families.
  
  
  METHODS
  Exploratory tympanotomy in 1 patient.
  
  
  METHODS
  Medical and otologic histories and postoperative hearing outcomes.
  
  
  RESULTS
  In the patient that was operated upon, the preoperative air conduction hearing threshold of 55 dB was reduced to 41 dB with a residual air bone gap of 21 dB. Furthermore, deoxyribonucleic acid analysis revealed 2 different mutations: a heterozygous nonsense mutation in the NOG gene, c.391C>T (p.Gln131X), and a frameshift mutation in the NOG gene (NOG, c.304del (p.Ala102fs)).
  
  
  CONCLUSIONS
  NOG gene mutations, which lead to aberrant noggin protein function, give rise to a large spectrum of clinical findings and different symphalangism syndromes. These syndromes are all allelic disorders within the Noggin phenotype spectrum. We report on 2 new mutations that are supplementary to those previously described in the literature.
authors.affiliation: Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands. H.Thomeer@kno.umcn.nl
authors.forename: Henricus G X M
authors.initials: HG
authors.lastname: Thomeer
authors.forename: Ronald J C
authors.initials: RJ
authors.lastname: Admiraal
authors.forename: Lies
authors.initials: L
authors.lastname: Hoefsloot
authors.forename: Henricus P M
authors.initials: HP
authors.lastname: Kunst
authors.forename: Cor W R J
authors.initials: CW
authors.lastname: Cremers
mesh_terms: D000328:Adult; D002352:Carrier Proteins / Q000235:genetics*; D002675:Child, Preschool; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006314:Hearing Loss, Conductive / Q000235:genetics*; D006801:Humans; D006956:Hyperopia / Q000235:genetics*; D007223:Infant; D008297:Male; D009154:Mutation; D010375:Pedigree; D013576:Syndactyly / Q000235:genetics*; D014034:Toes / Q000002:abnormalities; D000099176:Noggin Protein
chemical_list: D002352:Carrier Proteins; D000099176:Noggin Protein