De novo mutation in X-linked hearing loss-associated POU3F4 in a sporadic case of congenital hearing loss.
OBJECTIVES
In this report, we present a male patient with no family history of hearing loss, in whom we identified a novel de novo mutation in the POU3F4 gene.


METHODS
One hundred ninety-four (194) Japanese subjects from unrelated and nonconsanguineous families were enrolled in this study. We used targeted genomic enrichment and massively parallel sequencing of all known nonsyndromic hearing loss genes for identifying the genetic causes of hearing loss.


RESULTS
A novel de novo frameshift mutation of POU3F4 to c.727_728insA (p.N244KfsX26) was identified. The patient was a 7-year-old male with congenital progressive hearing loss and inner ear deformity. Although the patient had received a cochlear implant, auditory skills were still limited. The patient also exhibited developmental delays similar to those previously associated with POU3F4 mutation.


CONCLUSION
This is the first report of a mutation in POU3F4 causing hearing loss in a Japanese patient without a family history of hearing loss. This study underscores the importance of comprehensive genetic testing of patients with hearing loss for providing accurate prognostic information and guiding the optimal management of patient rehabilitation.
['Moteki|Hideaki|H|', 'Shearer|A Eliot|AE|', 'Izumi|Shuji|S|', 'Kubota|Yamato|Y|', 'Azaiez|Hela|H|', 'Booth|Kevin T|KT|', 'Sloan|Christina M|CM|', 'Kolbe|Diana L|DL|', 'Smith|Richard J H|RJ|', 'Usami|Shin-Ichi|S|']
D044466:Asians D002648:Child D004252:DNA Mutational Analysis D003638:Deafness D002658:Developmental Disabilities D016057:Evoked Potentials, Auditory, Brain Stem D005260:Female D016368:Frameshift Mutation D059014:High-Throughput Nucleotide Sequencing D006801:Humans D008297:Male D050809:POU Domain Factors
POU3F4 hearing loss massively parallel sequencing genetics cochlear implant