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.
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.
Authors: Hideaki Moteki; A Eliot Shearer; Shuji Izumi; Yamato Kubota; Hela Azaiez; Kevin T Booth; Christina M Sloan; Diana L Kolbe; Richard J H Smith; Shin-Ichi Usami Journal: Ann Otol Rhinol Laryngol Date: 2015-03-19 Impact factor: 1.547
Authors: Ahmet M Tekin; Marco Matulic; Wim Wuyts; Masoud Zoka Assadi; Griet Mertens; Vincent van Rompaey; Yongxin Li; Paul van de Heyning; Vedat Topsakal Journal: Genes (Basel) Date: 2021-04-21 Impact factor: 4.096
Authors: Guney Bademci; Akeem Lasisi; Kemal O Yariz; Paola Montenegro; Ibis Menendez; Rodrigo Vinueza; Rosario Paredes; Germania Moreta; Asli Subasioglu; Susan Blanton; Suat Fitoz; Armagan Incesulu; Levent Sennaroglu; Mustafa Tekin Journal: BMC Med Genet Date: 2015-02-25 Impact factor: 2.103
Authors: Wan Du; Ming-Kun Han; Da-Yong Wang; Bing Han; Liang Zong; Lan Lan; Ju Yang; Qi Shen; Lin-Yi Xie; Lan Yu; Jing Guan; Qiu-Ju Wang Journal: Chin Med J (Engl) Date: 2017-01-05 Impact factor: 2.628