Literature DB >> 16717440

Phenotypic characterization of DFNA24: prelingual progressive sensorineural hearing impairment.

Regie Lyn P Santos1, Franziska M Häfner, Patrick L M Huygen, Thomas E Linder, Albert A Schinzel, Thomas Spillmann, Suzanne M Leal.   

Abstract

This article describes the hearing impairment (HI) phenotype which segregates in a large multi-generation Swiss-German family with autosomal dominant nonsyndromic HI. The locus segregating within this pedigree is located on chromosome 4q35-qter and is designated as DFNA24. For this pedigree, audiometric data on 25 hearing-impaired family members are available. It was demonstrated that within this kindred the HI is sensorineural, bilateral, prelingual in onset, and progressive throughout life. Age-related typical audiograms depict steeply down-sloping curves, with moderate high-frequency HI at birth, then steady progression to moderate HI in the low frequencies, severe HI at mid-frequencies and profound HI at high frequencies by age 70. Annual threshold deterioration was approximately 0.5 dB/year at 1-2 kHz after correction for presbycusis. Copyright 2006 S. Karger AG, Basel.

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Mesh：

Year:  2006        PMID： 16717440      PMCID： PMC2923580          DOI： 10.1159/000093525

Source DB:  PubMed          Journal:  Audiol Neurootol        ISSN： 1420-3030            Impact factor:   1.854


  9 in total

1.  Initial sequencing and analysis of the human genome.

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Journal:  Nature       Date:  2001-02-15       Impact factor: 49.962

2.  Clinical features of DFNA5.

Authors:  Els M R De Leenheer; Diederick A van Zuijlen; Lut Van Laer; Guy Van Camp; Patrick L M Huygen; Egbert H Huizing; Cor W R J Cremers
Journal:  Adv Otorhinolaryngol       Date:  2002

Review 3.  Clinical presentation of the DFNA loci where causative genes have not yet been cloned. DFNA4, DFNA6/14, DFNA7, DFNA16, DFNA20 and DFNA21.

Authors:  Patrick L M Huygen; Steven J H Bom; Guy Van Camp; Cor W R J Cremers
Journal:  Adv Otorhinolaryngol       Date:  2002

4.  A combined linkage-physical map of the human genome.

Authors:  X Kong; K Murphy; T Raj; C He; P S White; T C Matise
Journal:  Am J Hum Genet       Date:  2004-10-14       Impact factor: 11.025

5.  Differential expression of KCNQ4 in inner hair cells and sensory neurons is the basis of progressive high-frequency hearing loss.

Authors:  Kirk W Beisel; Sonia M Rocha-Sanchez; Ken A Morris; Liping Nie; Feng Feng; Bechara Kachar; Ebenezer N Yamoah; Bernd Fritzsch
Journal:  J Neurosci       Date:  2005-10-05       Impact factor: 6.167

6.  A novel locus (DFNA24) for prelingual nonprogressive autosomal dominant nonsyndromic hearing loss maps to 4q35-qter in a large Swiss German kindred.

Authors:  F M Häfner; A A Salam; T E Linder; D Balmer; A Baumer; A A Schinzel; T Spillmann; S M Leal
Journal:  Am J Hum Genet       Date:  2000-03-17       Impact factor: 11.025

7.  Mice lacking Dfna5 show a diverging number of cochlear fourth row outer hair cells.

Authors:  Lut Van Laer; Markus Pfister; Sofie Thys; Karen Vrijens; Marcus Mueller; Lieve Umans; Lutgarde Serneels; Luc Van Nassauw; Frank Kooy; Richard J H Smith; Jean-Pierre Timmermans; Fred Van Leuven; Guy Van Camp
Journal:  Neurobiol Dis       Date:  2005-08       Impact factor: 5.996

8.  Phenotype determination guides swift genotyping of a DFNA2/KCNQ4 family with a hot spot mutation (W276S).

Authors:  Vedat Topsakal; Ronald J E Pennings; Heleen te Brinke; Ben Hamel; Patrick L M Huygen; Hannie Kremer; Cor W R J Cremers
Journal:  Otol Neurotol       Date:  2005-01       Impact factor: 2.311

9.  Identification of a new locus for autosomal dominant non-syndromic hearing impairment (DFNA7) in a large Norwegian family.

Authors:  T Fagerheim; O Nilssen; P Raeymaekers; V Brox; T Moum; H H Elverland; E Teig; H H Omland; G K Fostad; L Tranebjaerg
Journal:  Hum Mol Genet       Date:  1996-08       Impact factor: 6.150
  9 in total
  1 in total

Review 1.  Terminal chromosome 4q deletion syndrome in an infant with hearing impairment and moderate syndromic features: review of literature.

Authors:  Barbara Vona; Indrajit Nanda; Cordula Neuner; Jörg Schröder; Vera M Kalscheuer; Wafaa Shehata-Dieler; Thomas Haaf
Journal:  BMC Med Genet       Date:  2014-06-25       Impact factor: 2.103
  1 in total

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