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Otol Neurotol. 2011 Jun;32(4):632-8. doi: 10.1097/MAO.0b013e318211fada.

Proximal symphalangism, hyperopia, conductive hearing impairment, and the NOG gene: 2 new mutations.

Author information

  • 1Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands. H.Thomeer@kno.umcn.nl

Abstract

OBJECTIVES:

To report on 2 families with proximal symphalangism syndrome and 2 new NOG gene mutations and to report on the outcomes of exploratory tympanotomy.

STUDY DESIGN:

Retrospective chart study.

SETTING:

Tertiary referral center.

PATIENTS:

A total of 6 patients, one of which underwent an exploratory tympanotomy, were examined from 2 families.

INTERVENTION:

Exploratory tympanotomy in 1 patient.

MAIN OUTCOME MEASURES:

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)).

CONCLUSION:

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.

PMID:
21358557
[PubMed - indexed for MEDLINE]
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