A New Mutation in the POU3F4 Gene in a Japanese Family With X-linked Mixed Deafness (DFN3)

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Abstract

Objective:

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.

Study Design:

This was a genetic study of a single Japanese family with DFN3.

Methods:

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.

Results:

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.

Conclusion:

Microdeletions at a previously undescribed location account for some clinically important POU3F4 mutations.

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