Background： The molecular genetic research showed the association between X-linked bearing loss and mutations in POU3F4. This research aimed to identify a POU3F4 mutation in a nonsyndromic X-linked recessive hearing ...Background： The molecular genetic research showed the association between X-linked bearing loss and mutations in POU3F4. This research aimed to identify a POU3F4 mutation in a nonsyndromic X-linked recessive hearing loss family. Methods： A series of clinical evaluations including medical history, otologic examinations, l：amily history, audiologic testing, and a high-resolution computed tomography scan were performed t＇or each patient. Bidirectional sequencing was carried out for all polymerase chain reaction products or＇the samples. Moreover, 834 controls with normal hearing were also tested. Results： The pedigree showed X-linkage recessive inheritance pattern, and pathogenic mutation （c.499C〉T） was identified in the proband and his family member, which led to a premature termination prior to the entire POU domains. This mutation co-segregated with bearing loss in this family. No mutation ofPOU3F4 gene was found in 834 controls. Conclusions： A nonsense mutation is identified in a family displaying the pedigree consistent with X-linked recessive pattern in POU3F4 gene. In addition, we may provide molecular diagnosis and genetic counseling for this family.展开更多
基金This work was supported by the grants from the National Key Basic Research Program of China （No.2014CB943001）, the National Natural Science Foundation of China （No. 81120108009 and No. 81530032）, and the China Postdoctoral Science Foundation （No.2015M572690）.
文摘Background： The molecular genetic research showed the association between X-linked bearing loss and mutations in POU3F4. This research aimed to identify a POU3F4 mutation in a nonsyndromic X-linked recessive hearing loss family. Methods： A series of clinical evaluations including medical history, otologic examinations, l：amily history, audiologic testing, and a high-resolution computed tomography scan were performed t＇or each patient. Bidirectional sequencing was carried out for all polymerase chain reaction products or＇the samples. Moreover, 834 controls with normal hearing were also tested. Results： The pedigree showed X-linkage recessive inheritance pattern, and pathogenic mutation （c.499C〉T） was identified in the proband and his family member, which led to a premature termination prior to the entire POU domains. This mutation co-segregated with bearing loss in this family. No mutation ofPOU3F4 gene was found in 834 controls. Conclusions： A nonsense mutation is identified in a family displaying the pedigree consistent with X-linked recessive pattern in POU3F4 gene. In addition, we may provide molecular diagnosis and genetic counseling for this family.
