Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Variable clinical features in patients with CDH23 mutations (USH1D-DFNB12).

Ronald J E Pennings1, Vedat Topsakal, Lisa Astuto

  • 1Department of Otorhinolaryngology, UMC St Radboud, Nijmegen, The Netherlands. r.pennings@kno.umcn.nl

Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [And] European Academy of Otology and Neurotology
|September 9, 2004
PubMed
Summary

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Clinical and genetic heterogeneity of syndromic hearing loss and its non-syndromic hearing loss mimics.

Molecular medicine (Cambridge, Mass.)·2026
Same author

Exploring exon excision as a therapeutic intervention strategy for the future treatment of <i>ADGRV1-</i>associated retinitis pigmentosa.

Molecular therapy. Nucleic acids·2025
Same author

[A boy with red ears].

Nederlands tijdschrift voor geneeskunde·2025
Same author

Deciphering the largest disease-associated transcript isoforms in the human neural retina with advanced long-read sequencing approaches.

Genome research·2025
Same author

Exome variant prioritization in a large cohort of hearing-impaired individuals indicates IKZF2 to be associated with non-syndromic hearing loss and guides future research of unsolved cases.

Human genetics·2024
Same author

Uncovering recessive alleles in rare Mendelian disorders by genome sequencing of 174 individuals with monoallelic pathogenic variants.

European journal of human genetics : EJHG·2024

Mutations in the CDH23 gene cause hearing loss. Missense mutations result in a milder form (DFNB12) with normal vision and vestibular function, while splice-site mutations cause Usher syndrome Type 1D (USH1D).

Area of Science:

  • Genetics
  • Ophthalmology
  • Audiology

Background:

  • The CDH23 gene is implicated in hereditary hearing loss and vision disorders.
  • Mutations in CDH23 are associated with both non-syndromic hearing loss (DFNB12) and Usher syndrome Type 1D (USH1D).

Purpose of the Study:

  • To characterize the audiovestibular and ophthalmologic findings in families with CDH23 gene mutations.
  • To differentiate the clinical phenotypes associated with different types of CDH23 mutations.

Main Methods:

  • A family study involving four DFNB12 and six USH1D patients with confirmed CDH23 mutations.
  • Comprehensive audiovestibular assessments including pure-tone audiometry and vestibular reflex testing.
  • Detailed ophthalmologic examinations covering visual acuity, retinal function, and ocular imaging.

Related Experiment Videos

Main Results:

  • USH1D patients exhibited significantly greater hearing impairment compared to DFNB12 patients.
  • DFNB12 patients, with missense CDH23 mutations, presented with normal retinal and vestibular function.
  • USH1D patients, with splice-site CDH23 mutations, displayed a typical Usher syndrome Type I phenotype; one DFNB12 patient showed subtle yellowish retinal flecks.

Conclusions:

  • Recessive missense CDH23 mutations lead to a milder DFNB12 phenotype than splice-site mutations causing USH1D.
  • DFNB12 patients may present with bilateral flecks, potentially indicating lipofuscin accumulation, despite normal retinal function.