Page 8 - L. Genetics and genomics

[L. Genetics and genomics-11]

Identification of CHPF2 as a novel candidate gene for

progressive nonsyndromic hearing loss

Kyumin Kim¹, Byunghwa Noh¹, Jinsei Jung¹˙*, Heon Yung Gee², Jae Young Choi¹

¹Department of Otorhinolaryngology, Yonsei University College of Medicine, Seoul 03722, Republic of Korea,

²Department of Pharmacology, Yonsei University College of Medicine, Seoul 03722, Republic of Korea

Hearing loss caused by autosomal dominant diseases accounts for 22-25% of hereditary hearing loss, and about
30 causative genes have been identified. However, the exact association and mechanism for this are not yet known.

In addition, there are many related genes that have not been discovered yet, and research is underway to discover

them. In this study, we uncovered CHPF2 as a newly discovered deafness gene through whole exome sequencing
in a family where affected individuals showed progressive hearing loss with the onset from 20s to 40s. To functionally
validate CHPF2 as a deafness gene, fertilized eggs were obtained from adult zebrafish and morpholino (MO)

targeting chpf2 was injected into those egg at one cell stage. As results, we found that the number of hair cells in
neuromasts significantly decreased in the MO injection group compared to the control group, while the morphology

of otolith did not differ between two groups. Taken together, we consider that the mutation in CHPF2 causes
autosomal dominant nonsyndromic sensorineural hearing loss, which may be caused by the hair cell degeneration

in the inner ear.