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References OMIM Gene GeneReviews HGMD HGNC
last update : 01-06-2015
Symbol DFNA41
Location 12q24.33
HGNC id 15575
Name neurosensory deafness 41
Corresponding gene P2RX2
Main clinical features
  • nonsyndromic sensorineural deafness involving all frequencies
  • onset of progressive sensorineural hearing loss usually in the second decade
  • the hearing loss is severe and ultimately affects all frequencies and exposure to noise exacerbates the hearing loss, particularly at high frequencies
  • Genetic determination autosomal dominant
    Function/system disorder ear
    Type disease
  • P2RX2 p.V60 is known to be critical to the function of the P2X2 receptor by forming a disulfide bond with P2RX2 p.I339 (NP_174873), creating the gate that opens the channel on stimulation by ATP (PMID: 23345450))