ArticleHuman genetics2018
MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss.
Article in Human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 41 citations in OpenAlex.
- Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.Human genomics · 2025Pooled it
- Gene supplementation with precise transgene expression rescues hearing loss in a mouse model with an Mpzl2 East Asian founder variant.Molecular therapy : the journal of the American Society of Gene Therapy · 2026Article
- PAM-flexible adenine base editing rescues hearing loss in a humanized MPZL2 mouse model harboring an East Asian founder mutation.Nature communications · 2025Article
- Autophagy induction enhances homologous recombination-associated CRISPR-Cas9 gene editing.Nucleic acids research · 2025Article
- EVA1-antibody drug conjugate is a new therapeutic strategy for eliminating glioblastoma-initiating cells.Neuro-oncology · 2025Article
- Identification of Novel Gene Signature Predicting Lymph Node Metastasis in Papillary Thyroid Cancer via Bioinformatics Analysis and in vitro Validation.International journal of general medicine · 2025Article
- Hearing restoration by gene replacement therapy for a multisite-expressed gene in a mouse model of human DFNB111 deafness.American journal of human genetics · 2024Article
- MPZL2-a common autosomal recessive deafness gene related to moderate sensorineural hearing loss in the Chinese population.BMC medical genomics · 2024Article
- Genome sequencing identifies coding and non-coding variants for non-syndromic hearing loss.Journal of human genetics · 2023Article
- Single-cell RNA-sequencing of stria vascularis cells in the adult Slc26a4BMC medical genomics · 2023Article
- Review
- Development of a basement membrane gene signature and identification of the potential candidate therapeutic targets for pancreatic cancer.Gland surgery · 2023Article
- A novelLaryngoscope investigative otolaryngology · 2022Article
- Genetic etiology of hearing loss in Iran.Human genetics · 2022Review
- Compulsive methamphetamine self-administration in the presence of adverse consequences is associated with increased hippocampal mRNA expression of cellular adhesion molecules.Frontiers in molecular neuroscience · 2022Article
- The Cause of Hereditary Hearing Loss inGenes · 2021Article
- Rare deleterious germline variants and risk of lung cancer.NPJ precision oncology · 2021Article
- Small fish, big prospects: using zebrafish to unravel the mechanisms of hereditary hearing loss.Hearing research · 2020Article
- Reinterpretation, reclassification, and its downstream effects: challenges for clinical laboratory geneticists.BMC medical genomics · 2019Article
- A truncating CLDN9 variant is associated with autosomal recessive nonsyndromic hearing loss.Human genetics · 2019Article
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Authors and funding
25 authors at 12 institutions in 6 countries.
Funding
Abstract
While recent studies have revealed a substantial portion of the genes underlying human hearing loss, the extensive genetic landscape has not been completely explored. Here, we report a loss-of-function variant (c.72delA) in MPZL2 in three unrelated multiplex families from Turkey and Iran with autosomal recessive nonsyndromic hearing loss. The variant co-segregates with moderate sensorineural hearing loss in all three families. We show a shared haplotype flanking the variant in our families implicating a single founder. While rare in other populations, the allele frequency of the variant is ~ 0.004 in Ashkenazi Jews, suggesting that it may be an important cause of moderate hearing loss in that population. We show that Mpzl2 is expressed in mouse inner ear, and the protein localizes in the auditory inner and outer hair cells, with an asymmetric subcellular localization. We thus present MPZL2 as a novel gene associated with sensorineural hearing loss.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.