Screening mutations of OTOFgene in Chinese patients with auditory neuropathy, including a familial case of temperature-sensitive auditory neuropathy
نویسندگان
چکیده
منابع مشابه
OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele.
INTRODUCTION The majority of hearing loss in children can be accounted for by genetic causes. Non-syndromic hearing loss accounts for 80% of genetic hearing loss in children, with mutations in DFNB1/GJB2 being by far the most common cause. Among the second tier genetic causes of hearing loss in children are mutations in the DFNB9/OTOF gene. METHODS In total, 65 recessive non-syndromic hearing...
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OBJECTIVE To investigate auditory neural involvement in patients with Leber's hereditary optic neuropathy (LHON). METHODS Auditory assessment was undertaken in two patients with LHON. One was a 45 year old woman with Harding disease (multiple-sclerosis-like illness and positive 11778mtDNA mutation) and mild auditory symptoms, whose auditory function was monitored over five years. The other wa...
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Auditory neuropathy (AN) has been described in the literature as presenting with a combination of audiometric findings that include elevated behavioral audiometric thresholds, auditory brainstem response findings that are not consistent with audiometric findings, poor speech recognition, and present otoacoustic emissions (OAEs) and/or cochlear microphonics. Since the availability of clinical OA...
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Newborn hearing screening test is very important in the early diagnosis of childhood hearing loss because it affects language development. Auditory neuropathy is a spectrum disorder characterized by abnormal auditory brainstem response but preserved otoacoustic emission and cochlear microphonics. In general, auditory neuropathy patients have poor word discrimination and variable patterns of pur...
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ژورنال
عنوان ژورنال: BMC Medical Genetics
سال: 2010
ISSN: 1471-2350
DOI: 10.1186/1471-2350-11-79