ArticleMolecular cytogenetics2014
PAX3 gene deletion detected by microarray analysis in a girl with hearing loss.
Article in Molecular cytogenetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 15 citations in OpenAlex.
- Mild features of partialFrontiers in pediatrics · 2025Article
- A gross deletion of the PAX3 gene in a large Chinese family with Waardenburg syndrome type I.World journal of pediatrics : WJP · 2023Article
- Investigation of MicroRNA and transcription factor mediated regulatory network for silicosis using systems biology approach.Scientific reports · 2021Article
- Immune-Related Oral, Otologic, and Ocular Adverse Events.Advances in experimental medicine and biology · 2021Article
- Closing in on Mechanisms of Open Neural Tube Defects.Trends in neurosciences · 2020Review
- Neural crest contributions to the ear: Implications for congenital hearing disorders.Hearing research · 2019Review
- Prenatal diagnosis and genetic counseling for Waardenburg syndrome type I and II in Chinese families.Molecular medicine reports · 2018Article
- Prevalence of p.V37I variant of GJB2 among Chinese infants with mild or moderate hearing loss.International journal of clinical and experimental medicine · 2015Article
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Deletions of the PAX3 gene have been rarely reported in the literature. Mutations of this gene are a common cause of Waardenburg syndrome type 1 and 3. We report a 16 year old female presenting hearing loss and normal intellectual development, without major features of Waardenburg syndrome type 1, and without family history of the syndrome. Her phenotype, however, overlaps with features of craniofacial-deafness-hand syndrome. Microarray analysis showed ~862 kb de novo deletion at 2q36.1 including PAX3. The above findings suggest that the rearrangement found in our patient appeared de novo and with high probability is a cause of her phenotype.
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