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First clinical report of a rare PDZD7 nonsense variant and recurrent mutations in Iranian families with autosomal recessive non-syndromic hearing loss

Crossref DOI link: https://doi.org/10.1186/s12920-025-02257-7

Published Online: 2025-11-24

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Ghasemi, Hossein

Esmaeilzadeh, Emran

Abghari, Fateme Zahedi

Mohseni, Marzieh

Akbarpoor, Erfan

Khorram Khorshid, Hamid Reza

Bazazzadegan, Niloofar

Najafipour, Reza
Funding

Funding for this research was provided by:

University of Social Welfare and Rehabilitation Sciences (1402/801/A/6/30200)
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Text and Data Mining valid from 2025-11-24

Version of Record valid from 2025-12-29
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Article History

Received: 8 June 2025

Accepted: 9 October 2025

First Online: 24 November 2025

Declarations

:

: The study protocol was approved by the Ethics Committee of the University of Social Welfare and Rehabilitation Sciences (Institutional ethical approval number: IR.USWR.REC.1403.055). Written informed consent was obtained from all participants prior to inclusion in the study. All participants were adults aged 16 years or older; no individuals under the age of 16 were enrolled. All procedures were conducted in accordance with the Declaration of Helsinki and its later amendments.

: Written informed consent was obtained from all participants for the publication of relevant clinical and genetic data included in this study.

: The authors declare no competing interests.

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