A new mutation in the POU3F4 gene in a Japanese family with X-linked mixed deafness (DFN3)

• Published in: The Laryngoscope Vol. 108; no. 10; p. 1544
• Main Authors: Hagiwara, H, Tamagawa, Y, Kitamura, K, Kodera, K
• Format: Journal Article
• Language: English
• Published: United States 01.10.1998
• Subjects: Asian Continental Ancestry Group - genetics; Audiometry, Pure-Tone; Deafness - genetics; DNA Mutational Analysis; Female; Genetic Linkage; Humans; Japan; Male; Mutation; Pedigree; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational; POU Domain Factors; Transcription Factors - genetics; X Chromosome; Japan
• ISSN: 0023-852X
• DOI: 10.1097/00005537-199810000-00022

The molecular defect in patients with X-linked mixed deafness showing a perilymphatic gusher at stapedectomy (DFN3) has been attributed to mutations in the POU3F4 gene. This study aimed to clarify an allelic variant of this gene. This was a genetic study of a single Japanese family with DFN3. Products of a polymerase chain reaction (PCR) were subjected to single-strand conformation polymorphism (SSCP) analysis. Direct sequencing of PCR products from patients and carriers showing SSCP variants was performed using the fluorescent dideoxy termination method and a sequencer. Sequencing of the PCR product revealed a 6-base deletion (TTCAAA) at nucleotides 601 to 606, resulting in a two-amino-acid deletion in the POU3F4 protein, (phenylalanine and lysine at amino acid residues 201 and 202). The deletion was adjacent to the site of a nonsense mutation previously described. Microdeletions at a previously undescribed location account for some clinically important POU3F4 mutations.