Table 5.

X-Linked Nonsyndromic Hearing Loss: Distinctive Features Associated with Selected Genes

GeneDistinctive Feature
AIFM1 Assoc w/phenotypic spectrum incl XL nonsyndromic auditory neuropathy & XL syndromic auditory neuropathy w/other assoc neuropathies such as ataxia & Cowchock syndrome (X-linked recessive Charcot-Marie-Tooth disease type 4)
POU3F4 Assoc w/mixed conductive-sensorineural HL. Conductive hearing loss in this disorder is caused by stapedial fixation (see Agents/Circumstances to Avoid).
PRPS1 Assoc w/phenotypic spectrum incl XL nonsyndromic HL (PRPS1-DFNX1 & XL syndromic HL (phosphoribosylpyrophosphate synthetase (PRS) superactivity & PRS deficiency)

Hearing loss = HL; XL = X-linked


Nonsyndromic deafness loci are designated DFN (for DeaFNess) and further classified by mode of inheritance (e.g., DFNX: X-linked).

From: Genetic Hearing Loss Overview

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