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

✍ Scribed by Hideo Hagiwara; Yuya Tamagawa; Ken Kitamura; Kazuoki Kodera


Book ID
110079816
Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
461 KB
Volume
108
Category
Article
ISSN
0023-852X

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We have investigated two unrelated males with X-linked deafness type 3 (DFN3) for mutations in the POU3F4 gene. In one patient, we observed a mutation that is predicted to result in an Arg330Ser amino acid substitution. In another DFN3 patient, a somatic mosaicism for an Arg323Gly amino acid substit

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A linkage analysis has been performed in a large Dutch kindred with progressive mixed deafness with perilymphatic gusher during stapes surgery (DFN3) using a panel of X-chromosomal RFLPs. Tight linkage (zmax = 3.07 at 0 = theta = 0.00) was demonstrated with the locus for phosphoglycerate kinase (PGK