scholarly journals Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome

2001 ◽  
Vol 109 (5) ◽  
pp. 535-541 ◽  
Author(s):  
Nikki Liburd ◽  
Manju Ghosh ◽  
Saima Riazuddin ◽  
Sadaf Naz ◽  
Shaheen Khan ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Novel Mutations ◽  
Severe Hearing Loss ◽  
Profound Deafness

Novel Mutations in GRXCR1 at DFNB25 Lead to Progressive Hearing Loss and Dizziness

2015 ◽  
Vol 124 (1_suppl) ◽  
pp. 129S-134S ◽  
Author(s):  
Kentaro Mori ◽  
Ikuyo Miyanohara ◽  
Hideaki Moteki ◽  
Shin-ya Nishio ◽  
Yuichi Kurono ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Massively Parallel Sequencing ◽  
Massively Parallel ◽  
Compound Heterozygous ◽  
Nonsyndromic Hearing Loss ◽  
Novel Mutations ◽  
Progressive Hearing Loss ◽  
Severe Hearing Loss ◽  
Parallel Sequencing ◽  
Targeted Genomic Enrichment

Objective: We identified 2 patients in 1 family who had novel mutations in GRXCR1, which caused progressive hearing loss. Methods: One thousand one hundred twenty Japanese hearing loss patients with sensorineural hearing loss from unrelated families were enrolled in this study. Targeted genomic enrichment with massively parallel sequencing of all known nonsyndromic hearing loss genes was used to identify the genetic causes of hearing loss. Results: In this study, 2 affected individuals with compound heterozygous mutations—c.439C>T (p.R147C) and c.784C>T (p.R262X)—in GRXCR1 were identified. The proband had moderate to severe hearing loss and suffered from dizziness with bilateral canal paralysis. Conclusion: Our cases are the first identified in the Japanese population and are consistent with previously reported cases. The frequency of mutations in GRXCR1 seems to be extremely rare. This study underscores the importance of using comprehensive genetic testing for hearing loss. Furthermore, longitudinal audiologic assessment and precise vestibular testing are necessary for a better understanding of the mechanisms of hearing loss and vestibular dysfunction caused by GRXCR1 mutations.

Otoacoustic Emissions in an Adult With Severe Hearing Loss

1991 ◽  
Vol 34 (3) ◽  
pp. 703-703
Author(s):  
B. A. Prieve ◽  
M. Gorga ◽  
S. T. Neely
Keyword(s):  
Hearing Loss ◽  
Otoacoustic Emissions ◽  
Severe Hearing Loss

Screening of the DFNB3 Locus: Identification of Three Novel Mutations of MYO15A Associated with Hearing Loss and Further Suggestion for Two Distinctive Genes on This Locus

2009 ◽  
Vol 13 (1) ◽  
pp. 147-151 ◽  
Author(s):  
Hanen Belguith ◽  
Mounira Aifa-Hmani ◽  
Houria Dhouib ◽  
Mariem Ben Said ◽  
Mohamed Ali Mosrati ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Novel Mutations

scholarly journals Recessive mutations of TMC1 associated with moderate to severe hearing loss

Neurogenetics ◽  
2016 ◽  
Vol 17 (2) ◽  
pp. 115-123 ◽  
Author(s):  
Ayesha Imtiaz ◽  
Azra Maqsood ◽  
Atteeq U. Rehman ◽  
Robert J. Morell ◽  
Jeffrey R. Holt ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Severe Hearing Loss ◽  
Recessive Mutations

scholarly journals Speech Sound Production in 2-Year-Olds Who Are Hard of Hearing

2014 ◽  
Vol 23 (2) ◽  
pp. 91-104 ◽  
Author(s):  
Sophie E. Ambrose ◽  
Lauren M. Unflat Berry ◽  
Elizabeth A. Walker ◽  
Melody Harrison ◽  
Jacob Oleson ◽  
...  
Keyword(s):  
Socioeconomic Status ◽  
Hearing Loss ◽  
Hearing Aids ◽  
Hard Of Hearing ◽  
Sound Production ◽  
Speech Sound ◽  
Linguistic Variables ◽  
Vowel Production ◽  
Severe Hearing Loss ◽  
Children's Speech

Purpose The purpose of the study was to (a) compare the speech sound production abilities of 2-year-old children who are hard of hearing (HH) to children with normal hearing (NH), (b) identify sources of risk for individual children who are HH, and (c) determine whether speech sound production skills at age 2 were predictive of speech sound production skills at age 3. Method Seventy children with bilateral, mild-to-severe hearing loss who use hearing aids and 37 age- and socioeconomic status–matched children with NH participated. Children's speech sound production abilities were assessed at 2 and 3 years of age. Results At age 2, the HH group demonstrated vowel production abilities on par with their NH peers but weaker consonant production abilities. Within the HH group, better outcomes were associated with hearing aid fittings by 6 months of age, hearing loss of less than 45 dB HL, stronger vocabulary scores, and being female. Positive relationships existed between children's speech sound production abilities at 2 and 3 years of age. Conclusion Assessment of early speech sound production abilities in combination with demographic, audiologic, and linguistic variables may be useful in identifying HH children who are at risk for delays in speech sound production.

scholarly journals Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss

2008 ◽  
Vol 17 (14) ◽  
pp. 2150-2159 ◽  
Author(s):  
A. Rajab ◽  
D. Kelberman ◽  
S. C.P. de Castro ◽  
H. Biebermann ◽  
H. Shaikh ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Sensorineural Hearing ◽  
Novel Mutations

scholarly journals The Physiologic and Psychophysical Consequences of Severe-to-Profound Hearing Loss

2018 ◽  
Vol 39 (04) ◽  
pp. 349-363 ◽  
Author(s):  
Eric Hoover ◽  
Pamela Souza
Keyword(s):  
Hearing Loss ◽  
Speech Recognition ◽  
Treatment Options ◽  
Sufficient Information ◽  
Noisy Environments ◽  
Cochlear Function ◽  
Profound Hearing Loss ◽  
Sound Perception ◽  
Severe Hearing Loss ◽  
Tuning Curves

AbstractSubstantial loss of cochlear function is required to elevate pure-tone thresholds to the severe hearing loss range; yet, individuals with severe or profound hearing loss continue to rely on hearing for communication. Despite the impairment, sufficient information is encoded at the periphery to make acoustic hearing a viable option. However, the probability of significant cochlear and/or neural damage associated with the loss has consequences for sound perception and speech recognition. These consequences include degraded frequency selectivity, which can be assessed with tests including psychoacoustic tuning curves and broadband rippled stimuli. Because speech recognition depends on the ability to resolve frequency detail, a listener with severe hearing loss is likely to have impaired communication in both quiet and noisy environments. However, the extent of the impairment varies widely among individuals. A better understanding of the fundamental abilities of listeners with severe and profound hearing loss and the consequences of those abilities for communication can support directed treatment options in this population.

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