This research aimed to identify a POU3F4 mutation in a nonsyndromic X-linked recessive hearing loss family.
So far, five loci (DFNX1, DFNX2, DFNX3, DFNX4, and DFNX6) and four genes ( PRPS1 , POU3F4 , SMPX , and COL4A6 ) have been found for X-linked hearing impairment.
The molecular genetic research showed the association between X-linked hearing loss and mutations in POU3F4 .
sup] To identify the mutation in the POU3F4 gene, in this study, we performed the analysis in a Chinese nonsyndromic X-linked hereditary hearing loss family.
The coding region of POU3F4 was amplified by polymerase chain reaction (PCR) with two pairs of primers.
Variant analysis of the POU3F4 was performed for the radiologic results.
In recent years, studies have performed on POU3F4 gene mutations in different countries.
Last but not the least, DFNX3 has already been diagnosed in molecular level, so POU3F4 gene should be screened in the outpatient persons who have the clinical phenotypes of DFNX3.
In conclusion, a nonsense mutation is identified in a Chinese family displaying the pedigree consistent with X-linked recessive pattern in POU3F4 gene.
Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4.
Molecular analysis of the POU3F4 gene in patients with clinical and radiographic evidence of X-linked mixed deafness with perilymphatic gusher.
The molecular basis of X-linked deafness type 3 (DFN3) in two sporadic cases: Identification of a somatic mosaicism for a POU3F4 missense mutation.