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DFNX1 Nonsyndromic Hearing Loss and Deafness.


Yuan H, Liu XZ.


GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2011 Aug 04.



DFNX1 nonsyndromic hearing loss and deafness is part of the spectrum of PRPS1-related disorders. The hearing loss in males is bilateral, sensorineural, and moderate to profound; prelingual or postlingual in onset; and progressive or non-progressive. The hearing in female carriers can be normal or abnormal.


Diagnosis relies on the presence of characteristic hearing loss in males and detection of a disease-causing mutation in PRPS1, the gene encoding ribose-phosphate pyrophosphokinase 1 (PRS-I; formerly phosphoribosyl pyrophosphate synthetase I).


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.


DFNX1 is inherited in an X-linked manner. The father of an affected male will not have the disease nor will he be a carrier of the mutation. If the mother of an affected male has a disease-causing mutation, the chance of transmitting it in each pregnancy is 50%: males who inherit the mutation will be affected; females who inherit the mutation will be carriers and may have hearing loss. Carrier testing for at-risk female relatives and prenatal diagnosis for pregnancies at increased risk are possible if the disease-causing mutation in the family has been identified.

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