Autosomal recessive nonsyndromic hearing loss 9
- Synonyms
- AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, 1, TEMPERATURE-SENSITIVE; Deafness, autosomal recessive 9; NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9; OTOF-Related Hearing Loss
Summary
Excerpted from the GeneReview:OTOF-related hearing loss is an auditory synaptopathy that results from defective synaptic transmission from normally functioning cochlear inner hair cells (IHCs) to the auditory nerve. Thus, newborn hearing screening (NBHS) that relies on otoacoustic emission (OAE) testing, which primarily assesses function of outer hair cells (OHCs), is usually normal, whereas hearing tests that rely on auditory brain stem response (ABR) testing are abnormal given the failure of signal transmission from IHCs to the auditory nerve. All individuals with OTOF-related hearing loss have severely impaired speech discrimination. The two phenotypes comprising OTOF-related hearing loss are typical OTOF-related hearing loss and atypical OTOF-related hearing loss. Typical OTOF-related hearing loss is characterized by congenital or prelingual, typically severe-to-profound bilateral hearing loss (70 to ≥90 dB) associated with normal OAEs and abnormal ABRs. With age, OAEs decrease or disappear in 20%-80% of individuals. Atypical OTOF-related hearing loss is characterized by either temperature-sensitive OTOF-related hearing loss or progressive OTOF-related hearing loss. Temperature-sensitive OTOF-related hearing loss is characterized by hearing that ranges from normal hearing to moderate hearing loss (0-55 dB) at baseline body temperature and declines to bilateral hearing loss ranging from severe (71-90 dB) to profound (>90 dB) with an elevation of body temperature (approximately 0.5 °C or more). The increased hearing loss resolves typically within hours of baseline body temperature returning to normal. Progressive OTOF-related hearing loss ranges from mild to moderate at onset, and over the course of a few months or years could progress to profound. Rate of hearing loss progression is variable.
- Full text of GeneReview (by section):
- Summary
- GeneReview Scope
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Hela Azaiez
- Ryan K Thorpe
- Amanda M Odell
- view full author information
Available tests
21 tests are in the database for this condition.
Check Related conditions for additional relevant tests.
Clinical tests (21 available)
Clinical features
Help- Abnormality of the nervous system
- Absent brainstem auditory responses
Absent brainstem auditory responses
- MedGen UID: 322983
- Concept ID: C1836742
- Finding: Finding
Abnormality of the nervous system
- Absent brainstem auditory responses
- Ear malformation
- Absence of acoustic reflex
Absence of acoustic reflex
- MedGen UID: 322049
- Concept ID: C1832834
- Finding: Finding
Ear malformation
- Sensorineural hearing loss disorder
Sensorineural hearing loss disorder
- MedGen UID: 9164
- Concept ID: C0018784
- Finding: Disease or Syndrome
Ear malformation
- Absence of acoustic reflex
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