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Deafness, autosomal recessive 9(DFNB9)

MedGen UID:
331376
Concept ID:
C1832828
Disease or Syndrome
Synonyms: AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, 1, TEMPERATURE-SENSITIVE; DFNB9; NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9; OTOF-Related Deafness
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
 
Gene: OTOF
Cytogenetic location: 2p23.3
OMIM®: 601071

Definition

OTOF-related deafness (DFNB9 nonsyndromic hearing loss) is characterized by two phenotypes: prelingual nonsyndromic hearing loss and, less frequently, temperature-sensitive nonsyndromic auditory neuropathy (TS-NSAN). The nonsyndromic hearing loss is bilateral severe-to-profound congenital deafness. In the first one or two years of life, OTOF-related deafness can appear to be an auditory neuropathy based on electrophysiologic testing in which auditory brain stem responses (ABRs) are absent and otoacoustic emissions (OAEs) are present. However, with time OAEs disappear and electrophysiologic testing is more consistent with a cochlear defect. The distinction between auditory neuropathy and a cochlear defect is important as cochlear implants may be of marginal value in persons with auditory neuropathy. TS-NSAN characterized by normal-to-mild hearing loss in the absence of fever and significant hearing loss ranging from severe-to-profound in the presence of fever. When the fever resolves, hearing returns to normal. [from GeneReviews]

Clinical features

Sensorineural hearing impairment
MedGen UID:
504436
Concept ID:
CN000380
Finding
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Absence of acoustic reflex
MedGen UID:
501042
Concept ID:
CN007509
Finding
Absence of the acoustic reflex, an involuntary contraction of the stapedius muscle that occurs in response to high-intensity sound stimuli.
Absent brainstem auditory responses
MedGen UID:
322983
Concept ID:
C1836742
Finding

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews

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