Progressive Dominant Hearing Loss (Autosomal Dominant Deafness‐41) and P2RX2 Gene Mutations: A Phenotype

Progressive Dominant Hearing Loss (Autosomal Dominant Deafness‐41) and P2RX2 Gene Mutations: A Phenotype–Genotype Study

Published:2019-10-08 Issue:7 Volume:130 Page:1657-1663
ISSN:0023-852X
Container-title:The Laryngoscope
language:en
Short-container-title:The Laryngoscope

Author:

Liu Xue Zhong¹²^ORCID,Yan Denise¹,Mittal Rahul¹,Ballard Megan E.¹,Feng Yong³

Affiliation:

1. Department of OtolaryngologyUniversity of Miami Miller School of Medicine Miami Florida U.S.A.

2. Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human GeneticsUniversity of Miami Miller School of Medicine Miami Florida U.S.A.

3. Department of Otolaryngology, Xiangya HospitalCentral South University Changsha China

Funder

National Institute on Deafness and Other Communication Disorders

National Natural Science Foundation of China

Publisher

Wiley

Subject

Otorhinolaryngology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/lary.28318

Reference37 articles.

1. The Economic Impact of Adult Hearing Loss

2. Prevalence of age-related hearing loss, including sex differences, in older adults in a large cohort study

3. Increases in the Rate of Age-Related Hearing Loss in the Older Old

4. Non-syndromic autosomal-dominant deafness

5. A novel locus for autosomal dominant non-syndromic deafness (DFNA41) maps to chromosome 12q24-qter

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1. Novel Clinical Manifestation and Favorable Treatment Outcome of Cochlear Implant in a Chinese Family With Likely Pathogenic Variant of the P2RX2 Gene;American Journal of Medical Genetics Part A;2024-09-11

2. Autosomal Dominant Non-Syndromic Hearing Loss (DFNA): A Comprehensive Narrative Review;Biomedicines;2023-06-01

3. Purinergic signaling in the peripheral vestibular system;Purinergic Signalling;2022-03-28

4. Characterization of UMi028-A-1 stem cell line that contains a CRISPR/Cas9 induced hearing loss-associated variant (V60L (c.178G > T)) in the P2RX2 gene;Stem Cell Research;2020-12

5. Erblich-bedingte Schwerhörigkeit – Rolle von P2RX2-Genmutationen;Laryngo-Rhino-Otologie;2020-10-27