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DEAFNESS, X-LINKED 1 (disorder)

Known as: DEAFNESS, X-LINKED 1, DEAFNESS, X-LINKED 2, SENSORINEURAL CONGENITAL, DFNX1 
National Institutes of Health

Related topics

Related topics

3 relations

Broader (1)

Genetic Diseases, X-Linked
Sensorineural Hearing Loss (disorder)X-linked inheritance

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Zebrafish Model for Nonsyndromic X‐Linked Sensorineural Deafness, DFNX1
Hereditary deafness is often a neurosensory disorder and affects the quality of life of humans. Only three X‐linked genes (POU… 
2019
2019
X-linked Charcot–Marie–Tooth disease type 5 with recurrent weakness after febrile illness
2016
2016
Functional characterization of a novel loss‐of‐function mutation of PRPS1 related to early‐onset progressive nonsyndromic hearing loss in Koreans (DFNX1): Potential implications on future therapeutic…
The symptoms of phosphoribosyl pyrophosphate synthetase 1 (PRPS1) deficiency diseases have been reported to be alleviated by… 
2014
2014
X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation
BackgroundX-linked Charcot-Marie-Tooth disease type 5 (CMTX5), Arts syndrome, and non-syndromic sensorineural deafness (DFN2) are… 
2014
2014
Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy
BackgroundPhosphoribosyl pyrophosphate synthetase (PRS) I deficiency is a rare medical condition caused by missense mutations in… 
Review
2012
Review
2012
Nonsyndromic X-linked hearing loss.
To date, 135 loci and 50 genes have been identified as causes of nonsyndromic hearing loss. Until recently, four loci (DFN2, DFN3… 
Review
2010
Review
2010
PRPS1 mutations: four distinct syndromes and potential treatment.
Highly Cited
2010
Highly Cited
2010
Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2.
2004
2004
Refinement of the locus for non-syndromic sensorineural deafness (DFN2)
Non-syndromic X-linked deafness is a rare form of genetic deafness in humans accounting for a small proportion of all hereditary… 
1996
1996
Mapping of DFN2 to Xq22.
Non-syndromic X-linked deafness is a rare form of genetic deafness accounting for a small proportion of all hereditary hearing… 
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