DFNX1 Nonsyndromic Hearing Loss and Deafness

TL;DRAbstract

Clinical characteristics DFNX1 nonsyndromic hearing loss and deafness is part of the spectrum of PRPS1-related disorders. Hearing loss in hemizygous males is bilateral, sensorineural, and moderate to profound; prelingual or postlingual in onset; and progressive or non-progressive. The audiogram shape is variable. Hearing in female carriers can be normal or abnormal. Diagnosis/testing Diagnosis relies on the presence of characteristic hearing loss in males and detection of a hemizygous PRPS1 pathogenic variant. Management Treatment of manifestations: Routine management of sensorineural hearing loss. Cochlear implantation can improve auditory and oral communication skills in affected males. Surveillance: Regular audiologic evaluation to assess hearing status and progression of hearing loss. Evaluation of relatives at risk: Evaluate at-risk males at birth with detailed audiometry to assure early diagnosis and treatment of hearing loss. Genetic counseling DFNX1 is inherited in an X-linked

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