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In the present study, genotype-phenotype correlations in eight Dutch DFNB8/10 families with compound heterozygous mutations in TMPRSS3 were addressed. We compared the phenotypes of the families by focusing on the mutation data. The compound heterozygous variants in the TMPRSS3 gene in the present families included one novel variant, p.Val199Met, and four(More)
O tosclerosis is caused by abnormal bone homeostasis of the otic capsule leading to bony fixation of the stapedial footplate in the oval window. Because the transmission of sound waves from outer to inner ear is disturbed by this fixation, the disease is characterised by conductive hearing impairment. 1 In some cases, an additional sensorineural component(More)
BACKGROUND Intracanalicular vestibular schwannomas have a range of treatment options that can preserve hearing: microsurgery, stereotactic radiotherapy, and conservative observation. OBJECTIVE To evaluate the natural course of hearing deterioration during a period of conservative observation. METHODS A retrospective case review was performed on 47(More)
Since deafness is the most common sensorineural disorder in humans, better understanding of the underlying causes is necessary to improve counseling and rehabilitation. A Dutch family with autosomal dominantly inherited sensorineural hearing loss was clinically and genetically assessed. The MYO6 gene was selected to be sequenced because of similarities with(More)
OBJECTIVE Genotype a family trait with autosomal dominant nonsyndromic sensorineural hearing impairment guided only by the phenotype. STUDY DESIGN Family study. SETTING Tertiary referral center. PATIENTS Fifteen family members. METHODS In the first phase, sequence analysis was performed on DNA isolated from buccal swabs of the proband and her(More)
OBJECTIVE To evaluate optimal placement of the Floating Mass Transducer of the Vibrant Soundbridge (Med-El, Innsbruck, Austria) against the round window membrane, particularly the impact of interposed coupling fascia and of covering materials. METHOD : Six fresh human cadaveric temporal bones were used. After mastoidectomy, posterior tympanotomy and(More)
OBJECTIVES To analyze cochleovestibular impairment features in P51S COCH mutation carriers (n = 22) in a new, large Dutch family and to compare the results to those obtained in previously identified similar mutation carriers (n = 52). To evaluate age-related features between progressive hearing and vestibular impairment of all mutation carriers (n = 74). (More)
The olfactory bulb (OB) receives odor information from the olfactory epithelium and relays this to the olfactory cortex. Using a mouse model, we found that development and maturation of OB interneurons depends on the zinc finger homeodomain factor teashirt zinc finger family member 1 (TSHZ1). In mice lacking TSHZ1, neuroblasts exhibited a normal tangential(More)
PURPOSE It has been demonstrated that mutations in deafness, autosomal recessive 31 (DFNB31), the gene encoding whirlin, is responsible for nonsyndromic hearing loss (NSHL; DFNB31) and Usher syndrome type II (USH2D). We screened DFNB31 in a large cohort of patients with different clinical subtypes of Usher syndrome (USH) to determine the prevalence of(More)