ArticleMolecular genetics & genomic medicine2019
A novel mutation of the PAX3 gene in a Chinese family with Waardenburg syndrome type I.
Article in Molecular genetics & genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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11 citing papers in PubMed, 10 citations in OpenAlex.
- A novel frameshift variant ofFrontiers in genetics · 2025Article
- Risk and Resilience Variants in the Retinoic Acid Metabolic and Developmental Pathways Associated with Risk of FASD Outcomes.Biomolecules · 2024Article
- A novel frameshift mutation in SOX10 gene induced Waardenburg syndrome type II.Molecular genetics & genomic medicine · 2024Article
- [Evaluation of hearing and speech rehabilitation after cochlear implantation in children with Waardenburg syndrome].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2022Article
- The genes for sensory perception of sound should be considered in gene diagnosis of congenital sensorineural hearing loss and microtia.Journal of applied genetics · 2022Article
- [Application of next generation sequencing in 3 Waardenburg syndrome].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2021Article
- [Genotype and phenotype analysis of a family with Waardenburg syndrome type Ⅰcaused by a novel mutation inLin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2021Article
- Case Report: A NovelFrontiers in genetics · 2021Article
- Two novel mutations of PAX3 and SOX10 were characterized as genetic causes of Waardenburg Syndrome.Molecular genetics & genomic medicine · 2020Article
- A Novel Spontaneous Mutation of theNeural plasticity · 2020Article
- A novel mutation of the PAX3 gene in a Chinese family with Waardenburg syndrome type I.Molecular genetics & genomic medicine · 2019Article
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11 authors at 3 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundTo analyze the clinical phenotypes and genetic variants of a Chinese family with Waardenburg syndrome (WS) and to explore the possible molecular pathogenesis of WS.
methodsThe clinical data from a patient and his family were collected. The genomic DNA of the patient and his family was purified from their peripheral blood. All exons and flanking sequences of the MITF, PAX3, SOX10, SNAI2, END3, and EDNRB genes were investigated through high-throughput sequencing. Based on the results of high-throughput sequencing, genetic variants in the patient and his family were verified and analyzed by Sanger sequencing.
resultsThe patient was diagnosed with typical WS1 that manifested in hearing impairment, inner canthus ectopia and heterochromic iris. Sanger sequencing revealed the pathogenic heterozygous c.420-424de1CGCGGinsTTAC mutation in the PAX3 gene in the proband, which is a frameshift mutation that changed the amino acid sequence of the PAX3 protein from AVCDRNTVPSV to YSVIETPCRQ* (* refers to a stop codon) from amino acids 141-151. The stop codon induced by this mutation resulted in the truncation of the PAX3 protein. The same mutation sites were also found in the mother and younger sister of the proband. No previous report of this mutation was found in the Human Gene Mutation Database.
conclusionThe novel heterozygous c.420-424de1CGCGGinsTTAC mutation is the molecular pathological cause for WS1 in our patient. The clinical and genetic characterization of this family with WS1 elucidated the genetic heterogeneity of PAX3 in WS1. Moreover, the mutation detected in this case has expanded the database of PAX3 mutations.
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