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Fig. 1

ID

ZDB-FIG-250814-25

Publication

Han et al., 2025 - Impact of HOMER2 frameshift extension variant on auditory function and development

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Fig. 1

Pedigree, audiometric profile, genetic analysis, and post-cochlear implantation speech outcomes from SB1190-1923 (F/61). a Pedigree of SB1190: the proband (F/61) carries the previously unreported, novel HOMER2 variant (c.1033 del (p.Arg345Glufs*64)) which is associated with DFNA68. Low pLI score (0.01) of HOMER2 suggests that alteration of HOMER2 exerts a pathogenic effect via a mechanism other than loss-of-function. Both parents of SB1190-1923 passed away in their early 70 s without showing any signs of significant hearing loss, and none of the SB1190-1923’s children exhibited any symptoms of hearing loss. b Preoperative pure tone audiograms show profound down-sloping sensorineural hearing loss with 8% speech discrimination score bilaterally. c Post-Cochlear Implantation speech outcome speech recognition improves significantly at 3- and 6-months post-implantation across various syllable and sentence conditions. F, female; pLI, intolerant; CI, cochlear implantation

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

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Acknowledgments

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