TY  - JOUR
AU  - Alimoradi, Elham
AU  - Nejati, Parham
AU  - Molavi, Fatemeh
AU  - Isaee, Setareh
AU  - Ghafouri-Fard, Soudeh
AU  - Alibakhshi, Reza
PY  - 2026
DA  - 2026/04/13
TI  - A Novel Missense Variant in the <i>CDH23</i> Gene is Segregated in an Iranian Family with Hearing Loss
JO  - OBM Genetics
SP  - 336
VL  - 10
IS  - 02
AB  - Sensorineural hearing loss (SNHL) describes a diverse group of clinically and genetically distinct disorders of the auditory system. SNHL is associated with mutations in up to 150 genes. Among them is Cadherin 23 (CDH23), which is associated with both Usher syndrome and non-syndromic hearing loss. In the current study, we used WES to find the genetic cause of SNHL in an extended Iranian family. WES and subsequent Sanger sequencing confirmed the occurrence of a novel homozygote variant in the CDH23 gene (c.817T>C, p.Tyr273His) in affected individuals of this pedigree and its transmission from the parents. This novel variant in the CDH23 was suggested as the cause of the profound SNHL in this family. Further functional research is needed to confirm the results.
SN  - 2577-5790
UR  - https://doi.org/10.21926/obm.genet.2602336
DO  - 10.21926/obm.genet.2602336
ID  - Alimoradi2026
ER  -