ArticleClinical genetics2010
Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation.
Article in Clinical genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
23 citing papers in PubMed, 38 citations in OpenAlex.
- Genetic Diagnosis of Non-Syndromic Hearing Loss in South Indian Consanguineous Families Using Whole-Exome Sequencing.Medicina (Kaunas, Lithuania) · 2026Article
- Molecular Characterization of Syndromic Hearing Loss in North African Moroccan Families.Biomolecules · 2026Article
- A novel duplication mutation in the MYO7A gene associated with autosomal recessive hearing loss in a Chinese family.Genes & genomics · 2026Article
- On the association between Chiari malformation type 1, bone mineral density and bone related genes.Bone reports · 2022Article
- Phenotypic characterization of retinitis pigmentosa associated with deafnessBiomedica : revista del Instituto Nacional de Salud · 2022Article
- Spectrum ofGenes · 2021Article
- Functional Role of Class III Myosins in Hair Cells.Frontiers in cell and developmental biology · 2021Review
- Homozygous mutations in Pakistani consanguineous families with prelingual nonsyndromic hearing loss.Molecular biology reports · 2020Article
- Small fish, big prospects: using zebrafish to unravel the mechanisms of hereditary hearing loss.Hearing research · 2020Article
- Usher Syndrome: Genetics and Molecular Links of Hearing Loss and Directions for Therapy.Frontiers in genetics · 2020Review
- ELMOD3, a novel causative gene, associated with human autosomal dominant nonsyndromic and progressive hearing loss.Human genetics · 2018Article
- Genetic causes of moderate to severe hearing loss point to modifiers.Clinical genetics · 2017Article
- Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss.PloS one · 2017Article
- Screening ofIranian journal of public health · 2017Article
- Heterogeneity of Hereditary Hearing Loss in Iran: a Comprehensive Review.Archives of Iranian medicine · 2016Review
- Genetic Correction of Induced Pluripotent Stem Cells From a Deaf Patient With MYO7A Mutation Results in Morphologic and Functional Recovery of the Derived Hair Cell-Like Cells.Stem cells translational medicine · 2016Article
- Analysis of two Arab families reveals additional support for a DFNB2 nonsyndromic phenotype of MYO7A.Molecular biology reports · 2014Article
- Article
- Autosomal recessive nonsyndromic deafness genes: a review.Frontiers in bioscience (Landmark edition) · 2012Review
- Actin in hair cells and hearing loss.Hearing research · 2012Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors at 7 institutions in 3 countries.
Funding
Abstract
Myosin VIIA mutations have been associated with non-syndromic hearing loss (DFNB2; DFNA11) and Usher syndrome type 1B (USH1B). We report clinical and genetic analyses of a consanguineous Iranian family segregating autosomal recessive non-syndromic hearing loss (ARNSHL). The hearing impairment was mapped to the DFNB2 locus using Affymetrix 50K GeneChips; direct sequencing of the MYO7A gene was completed. The Iranian family (L-1419) was shown to segregate a novel homozygous missense mutation (c.1184G>A) that results in a p.R395H amino acid substitution in the motor domain of the myosin VIIA protein. As one affected family member had significantly less severe hearing loss, we used a candidate approach to search for a genetic modifier. This novel MYO7A mutation is the first reported to cause DFNB2 in the Iranian population and this DFNB2 family is the first to be associated with a potential modifier. The absence of vestibular and retinal defects, and less severe low frequency hearing loss, is consistent with the phenotype of a recently reported Pakistani DFNB2 family. Thus, we conclude this family has non-syndromic hearing loss (DFNB2) rather than USH1B, providing further evidence that these two diseases represent discrete disorders.
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What OpenQuestion holds
Registered trials
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.