ArticleAmerican journal of human genetics1993
Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I).
Article in American journal of human genetics, 1993. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 71 papers.
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Who cites it
71 citing papers in PubMed, 258 citations in OpenAlex.
- Association of Waardenburg syndrome with a new mutation in theBiomedical reports · 2025Article
- Developmental arrest of astrocyte lineage in Snai2 deletion mice: implication for the intellectual disability in patients with Waardenburg syndrome.Translational psychiatry · 2025Article
- PAX Family, Master Regulator in Cancer.Diagnostics (Basel, Switzerland) · 2025Review
- A novel frameshift mutation in SOX10 gene induced Waardenburg syndrome type II.Molecular genetics & genomic medicine · 2024Article
- Review
- Loss of Pax3 causes reduction of melanocytes in the developing mouse cochlea.Scientific reports · 2024Article
- Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health.Frontiers in genetics · 2024Article
- Waardenburg Syndrome: The Contribution of Next-Generation Sequencing to the Identification of Novel Causative Variants.Audiology research · 2023Article
- Genetic insights, disease mechanisms, and biological therapeutics for Waardenburg syndrome.Gene therapy · 2022Review
- Waardenburg syndrome type 4 coexisting with open-angle glaucoma: a case report.Journal of medical case reports · 2022Article
- Pax7 pioneer factor action requires both paired and homeo DNA binding domains.Nucleic acids research · 2021Article
- Identification of a novel heterozygous mutation in the MITF gene in an Iranian family with Waardenburg syndrome type II using next-generation sequencing.Journal of clinical laboratory analysis · 2021Article
- High Genetic Heterogeneity in Chinese Patients With Waardenburg Syndrome Revealed by Next-Generation Sequencing.Frontiers in genetics · 2021Article
- Human muscle-derived CLEC14A-positive cells regenerate muscle independent of PAX7.Nature communications · 2019Article
- Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Comprehensive analysis of syndromic hearing loss patients in Japan.Scientific reports · 2019Article
- Review
- Syndromic Hearing Loss: A Brief Review of Common Presentations and Genetics.Journal of pediatric genetics · 2018Review
- Functional analysis of a nonstop mutation in MITF gene identified in a patient with Waardenburg syndrome type 2.Journal of human genetics · 2017Article
- TFAP2 paralogs regulate melanocyte differentiation in parallel with MITF.PLoS genetics · 2017Article
11 more citing papers are in PubMed but not listed here.
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
Waardenburg syndrome type I (WS-I) is an autosomal dominant disorder characterized by sensorineural hearing loss, dystopia canthorum, pigmentary disturbances, and other developmental defects. Klein-Waardenburg syndrome (WS-III) is a disorder with many of the same characteristics as WS-I and includes musculoskeletal abnormalities. We have recently reported the identification and characterization of one of the first gene defects, in the human PAX3 gene, which causes WS-I. PAX3 is a DNA-binding protein that contains a structural motif known as the paired domain and is believed to regulate the expression of other genes. In this report we describe two new mutations, in the human PAX3 gene, that are associated with WS. One mutation was found in a family with WS-I, while the other mutation was found in a family with WS-III. Both mutations were in the highly conserved paired domain of the human PAX3 gene and are similar to other mutations that cause WS. The results indicate that mutations in the PAX3 gene can cause both WS-I and WS-III.
Indexed as
Identifiers
8447316PMC1682157W1576876710What 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.