ArticleMolecular vision2010
PAX3 mutations and clinical characteristics in Chinese patients with Waardenburg syndrome type 1.
Article in Molecular vision, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 21 citations in OpenAlex.
- Epigenetic, Genetic, and Functional Germline Alterations ofCurrent issues in molecular biology · 2026Review
- Association of Waardenburg syndrome with a new mutation in theBiomedical reports · 2025Article
- A novel frameshift variant ofFrontiers in genetics · 2025Article
- A gross deletion of the PAX3 gene in a large Chinese family with Waardenburg syndrome type I.World journal of pediatrics : WJP · 2023Article
- A Novel Frameshift Variant of theMolecular syndromology · 2021Article
- Relationship between neural crest cell specification and rare ocular diseases.Journal of neuroscience research · 2019Review
- Review
- Review
- Waardenburg syndrome type I: Dental phenotypes and genetic analysis of an extended family.Medicina oral, patologia oral y cirugia bucal · 2016Article
- A novel mutation of theExperimental and therapeutic medicine · 2016Article
- Application of a New Genetic Deafness Microarray for Detecting Mutations in the Deaf in China.PloS one · 2016Article
- A novel missense mutation of the paired box 3 gene in a Turkish family with Waardenburg syndrome type 1.Molecular vision · 2013Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo detect paired box gene 3 (PAX3) mutations and associated phenotypes in Chinese patients with Waardenburg syndrome type 1 (WS1).
methodsFive unrelated families with suspected WS1 were selected from our Genomic DNA Repository for Hereditary Eye Diseases. The coding and adjacent intronic regions of PAX3 were amplified by polymerase chain reaction and the amplicons were then analyzed by cycle sequencing. Variations detected were further evaluated in available family members as well as one hundred controls with heteroduplex-single strand conformational polymorphism (heteroduplex-SSCP) analysis and/or clone sequencing.
resultsThree novel and two known mutations in PAX3 were detected in five patients, respectively: c.567_586+17del (p.Asp189_Gln505delinsGluGlyGlyAlaLeuAlaGly), c.456_459dupTTCC (p.Ile154PhefsX162), c.795_800delCTGGTT (p.Trp266_Phe267del), c.799T>A (p.Phe267Ile), and c.667C>T (p.Arg223X). Two novel mutations proved to be de novo as their parents did not carry the mutations. All five patients with PAX3 mutations had dystopia canthorum and different iris color and fundi between their two eyes. However, none had white forelock, skin hypopigmentation, and deafness.
conclusionsOur findings expand the frequency and spectrum of PAX3 mutations and ethnic-related phenotypes in Chinese patients with WS1. De novo mutations in PAX3 have not been reported before.
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20664692PMC2901192W1522685125What OpenQuestion holds
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