ArticleAmerican journal of human genetics2011
Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment.
Article in American journal of human genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers, 1 of them a synthesis that pooled it.
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Who cites it
50 citing papers in PubMed, 1 synthesis or guideline pooled it, 102 citations in OpenAlex.
- Prevalence of various etiologies of hearing loss among cochlear implant recipients: Systematic review and meta-analysis.International journal of audiology · 2015Pooled it
- Identification and Functional Characterization of a Novel POU3F4 Frameshift Mutation in a Chinese Family.Life (Basel, Switzerland) · 2026Article
- [Phenotypic and pathogenic variant analysis of an X-linked dominant inherited non-syndromic hearing loss pedigree].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2025Article
- Genomic and phenotypic landscapes of X-linked hereditary hearing loss in the Chinese population.Orphanet journal of rare diseases · 2024Article
- Differentiation and functioning of the lateral line organ in zebrafish require Smpx activity.Scientific reports · 2024Article
- Recent advances in genetic etiology of non-syndromic deafness in children.Frontiers in neuroscience · 2023Review
- Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions.Acta neuropathologica · 2021Article
- Inner Ear and Muscle Developmental Defects in Smpx-Deficient Zebrafish Embryos.International journal of molecular sciences · 2021Article
- A novel missense mutation inTranslational pediatrics · 2021Article
- Use of a Network-Based Method to Identify Latent Genes Associated with Hearing Loss in Children.Frontiers in cell and developmental biology · 2021Article
- Article
- Small fish, big prospects: using zebrafish to unravel the mechanisms of hereditary hearing loss.Hearing research · 2020Article
- Analysis of FGF20-regulated genes in organ of Corti progenitors by translating ribosome affinity purification.Developmental dynamics : an official publication of the American Association of Anatomists · 2020Article
- Rbm24a Is Necessary for Hair Cell Development Through Regulating mRNA Stability in Zebrafish.Frontiers in cell and developmental biology · 2020Article
- Whole-exome sequencing identifies a donor splice-site variant in SMPX that causes rare X-linked congenital deafness.Molecular genetics & genomic medicine · 2019Article
- Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- Genetic Hearing Loss and Gene Therapy.Genomics & informatics · 2018Article
- Clinical and molecular characterization of POU3F4 mutations in multiple DFNX2 Chinese families.BMC medical genetics · 2018Article
- X-Linked Sensorineural Hearing Loss: A Literature Review.Current genomics · 2018Review
- MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse.American journal of human genetics · 2018Article
Corrections and comments
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Authors and funding
13 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In a Dutch family with an X-linked postlingual progressive hearing impairment, a critical linkage interval was determined to span a region of 12.9 Mb flanked by the markers DXS7108 and DXS7110. This interval overlaps with the previously described DFNX4 locus and contains 75 annotated genes. Subsequent next-generation sequencing (NGS) detected one variant within the linkage interval, a nonsense mutation in SMPX. SMPX encodes the small muscle protein, X-linked (SMPX). Further screening was performed on 26 index patients from small families for which X-linked inheritance of nonsyndromic hearing impairment (NSHI) was not excluded. We detected a frameshift mutation in SMPX in one of the patients. Segregation analysis of both mutations in the families in whom they were found revealed that the mutations cosegregated with hearing impairment. Although we show that SMPX is expressed in many different organs, including the human inner ear, no obvious symptoms other than hearing impairment were observed in the patients. SMPX had previously been demonstrated to be specifically expressed in striated muscle and, therefore, seemed an unlikely candidate gene for hearing impairment. We hypothesize that SMPX functions in inner ear development and/or maintenance in the IGF-1 pathway, the integrin pathway through Rac1, or both.
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