Further Characterization of the DFNA1 Audiovestibular Phenotype

Lalwani, Anil K.; Jackler, Robert K.; Sweetow, Robert W.; Lynch, Eric D.; Raventós, Henriette; Morrow, Jan E.; King, Mary Claire; León, Pedro

doi:10.1001/archotol.124.6.699

Cited by 38 publications

(29 citation statements)

References 16 publications

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“…Low-frequency hearing loss together with electrophysiological signs of cochlear hydrops was seen in patients with the DFNA1 mutation (17,18). DFNA6/14 (19,20) also displayed low-frequency hearing loss, whereas DFNA15 was characterized by a hearing impairment affecting all frequencies (21).…”

Section: Discussionmentioning

confidence: 99%

Familial Ménière's Disease in Five Generations

Frykholm

Larsen²,

Dahl³

et al. 2006

Otology &Amp; Neurotology

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The pattern of inheritance suggested that familial MD was autosomal dominant and exhibited incomplete expression of inner ear symptoms in some affected members. The decreasing age at onset of disease with succeeding generations could indicate anticipation. None of the hitherto-known DFNA loci, which has phenotypes bearing some resemblance to MD, had haplotypes in common with this large family affected by MD.

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Section: Discussionmentioning

confidence: 99%

Familial Ménière's Disease in Five Generations

Frykholm

Larsen²,

Dahl³

et al. 2006

Otology &Amp; Neurotology

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“…Very early on in the study of Dia, a link of Dia to deafness in humans was established. DFNA1, characterized by a fully penetrant sensorineural hearing loss and malfunction of hair cells in the inner ear, is linked to a mutation in Dia that leads to a small C-terminal truncation 142 , 143 . A corresponding auditory dysfunction was observed in Drosophila dia mutants, 144 indicating a conserved function.…”

Section: Introductionmentioning

confidence: 99%

Formin’ cellular structures

Bogdan

Schultz

Großhans

2013

Communicative & Integrative Biology

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Members of the Diaphanous (Dia) protein family are key regulators of fundamental actin driven cellular processes, which are conserved from yeast to humans. Researchers have uncovered diverse physiological roles in cell morphology, cell motility, cell polarity, and cell division, which are involved in shaping cells into tissues and organs. The identification of numerous binding partners led to substantial progress in our understanding of the differential functions of Dia proteins. Genetic approaches and new microscopy techniques allow important new insights into their localization, activity, and molecular principles of regulation.

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“…Although the loci DFNA1, DFNA6/14/38, and DFNA54 are associated with LFSNHL, the progression of hearing impairment caused by a mutation in either of these three loci exhibits different characteristics. Patients carrying a mutation in the DFNA1 locus typically experience a rapidly deteriorating hearing impairment spreading from low to all higher frequencies [10]. In contrast, patients carrying a mutation in the DFNA54 or DFNA6/14/38 locus experience deafness propagating from low to high frequencies [5] or have no or mild progression beyond the presbycusis [4,9,11], respectively.…”

Section: Introductionmentioning

confidence: 99%

A novel mutation in the WFS1gene identified in a Taiwanese family with low-frequency hearing impairment

et al. 2007

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BackgroundWolfram syndrome gene 1 (WFS1) accounts for most of the familial nonsyndromic low-frequency sensorineural hearing loss (LFSNHL) which is characterized by sensorineural hearing losses equal to and below 2000 Hz. The current study aimed to contribute to our understanding of the molecular basis of LFSNHL in an affected Taiwanese family.MethodsThe Taiwanese family with LFSNHL was phenotypically characterized using audiologic examination and pedigree analysis. Genetic characterization was performed by direct sequencing of WFS1 and mutation analysis.ResultsPure tone audiometry confirmed that the family members affected with LFSNHL had a bilateral sensorineural hearing loss equal to or below 2000 Hz. The hearing loss threshold of the affected members showed no progression, a characteristic that was consistent with a mutation in the WFS1 gene located in the DFNA6/14/38 locus. Pedigree analysis showed a hereditarily autosomal dominant pattern characterized by a full penetrance. Among several polymorphisms, a missense mutation Y669H (2005T>C) in exon 8 of WFS1 was identified in members of a Taiwanese family diagnosed with LFSNHL but not in any of the control subjects.ConclusionWe discovered a novel heterozygous missense mutation in exon 8 of WFS1 (i.e., Y669H) which is likely responsible for the LFSNHL phenotype in this particular Taiwanese family.

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Further Characterization of the DFNA1 Audiovestibular Phenotype

Abstract: These results suggest that the early low-frequency hearing loss in this family is associated with endolymphatic hydrops. Elucidation of the role of the diaphanous gene in hearing will therefore lead to a better understanding of the mechanism of endolymphatic hydrops.

Cited by 38 publications

References 16 publications

Familial Ménière's Disease in Five Generations

Familial Ménière's Disease in Five Generations

Formin’ cellular structures

A novel mutation in the WFS1gene identified in a Taiwanese family with low-frequency hearing impairment

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