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Identification of a Novel Frameshift Variant of POU3F4 and Genetic Counseling of Korean Incomplete Partition Type III Subjects Based on Detailed Genotypes.
Jang JH, Oh J, Han JH, Park HR, Kim BJ, Lee S, Kim MY, Lee S, Oh DY, Choung YH, Choi BY. Jang JH, et al. Genet Test Mol Biomarkers. 2019 Jun;23(6):423-427. doi: 10.1089/gtmb.2018.0296. Epub 2019 May 7. Genet Test Mol Biomarkers. 2019. PMID: 31063410
This finding is compatible with the previously proposed tendency for a high de novo rate of large genomic deletions involving the X-linked deafness-2 (DFNX2) locus. Conclusion: This study adds a novel, probably pathogenic POU3F4 truncation variant to the lite …
This finding is compatible with the previously proposed tendency for a high de novo rate of large genomic deletions involving the X- …
Phenotype and genotype in females with POU3F4 mutations.
Marlin S, Moizard MP, David A, Chaissang N, Raynaud M, Jonard L, Feldmann D, Loundon N, Denoyelle F, Toutain A. Marlin S, et al. Clin Genet. 2009 Dec;76(6):558-63. doi: 10.1111/j.1399-0004.2009.01215.x. Clin Genet. 2009. PMID: 19930154
X-linked deafness is a rare cause of hereditary isolated hearing impairment estimated as at least 1% or 2% of the non-syndromic hearing loss. To date, four loci for DFN have been identified and only one gene, POU3F4 responsible for DFN3, has been cloned. In m …
X-linked deafness is a rare cause of hereditary isolated hearing impairment estimated as at least 1% or 2% of the non-s …