ArticleScientific reports2016
Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss.
Article in Scientific reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed, 58 citations in OpenAlex.
- Genetic Landscape of Hearing Loss in Brazilian Patients Reveals Population-Specific Variants and Clinical Correlations.Clinical genetics · 2026Article
- Neurogenetic Disorders with Hearing Loss: Mechanisms, Classifications, and Emerging Insights.Current neurology and neuroscience reports · 2025Review
- De Novo HeterozygousInternational journal of molecular sciences · 2025Article
- Rethinking non-syndromic hearing loss and its mimics in the genomic era.European journal of human genetics : EJHG · 2025Article
- Genetic analysis of patients with low-frequency non-syndromic hearing loss.Molecular genetics and genomics : MGG · 2024Article
- Intrafamilial phenotypic variability due to a missense pathogenic variant in FBP1 gene.Molecular genetics and metabolism reports · 2024Article
- Application and insights of targeted next-generation sequencing in a large cohort of 46,XY disorders of sex development in Chinese.Biology of sex differences · 2024Article
- Identification of novel MYH14 variants in families with autosomal dominant sensorineural hearing loss.American journal of medical genetics. Part A · 2024Article
- Paternally Inherited Noonan Syndrome Caused by aGenes · 2024Review
- CHD7 variants associated with hearing loss and enlargement of the vestibular aqueduct.Human genetics · 2023Article
- The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian Population.Biomedicines · 2023Article
- Gene burden analysis identifies genes associated with increased risk and severity of adult-onset hearing loss in a diverse hospital-based cohort.PLoS genetics · 2023Article
- De novo variants are a common cause of genetic hearing loss.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Article
- A comprehensive genotype-phenotype evaluation of eight Chinese probands with Waardenburg syndrome.BMC medical genomics · 2022Article
- Biallelic KITLG variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss.Journal of the European Academy of Dermatology and Venereology : JEADV · 2022Article
- Comprehensive genetic testing improves the clinical diagnosis and medical management of pediatric patients with isolated hearing loss.BMC medical genomics · 2022Article
- Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment.Human genetics · 2022Article
- There Is More Than Meets the Eye: Identification of Dual Molecular Diagnosis in Patients Affected by Hearing Loss.Biomedicines · 2021Article
- Powerful use of automated prioritization of candidate variants in genetic hearing loss with extreme etiologic heterogeneity.Scientific reports · 2021Article
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Authors and funding
24 authors at 11 institutions in 3 countries.
Funding
Abstract
The genetics of both syndromic (SHL) and non-syndromic hearing loss (NSHL) is characterized by a high degree of genetic heterogeneity. We analyzed whole exome sequencing data of 102 unrelated probands with apparently NSHL without a causative variant in known NSHL genes. We detected five causative variants in different SHL genes (SOX10, MITF, PTPN11, CHD7, and KMT2D) in five (4.9%) probands. Clinical re-evaluation of these probands shows that some of them have subtle syndromic findings, while none of them meets clinical criteria for the diagnosis of the associated syndrome (Waardenburg (SOX10 and MITF), Kallmann (CHD7 and SOX10), Noonan/LEOPARD (PTPN11), CHARGE (CHD7), or Kabuki (KMT2D). This study demonstrates that individuals who are evaluated for NSHL can have pathogenic variants in SHL genes that are not usually considered for etiologic studies.
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