ArticleMolecular genetics & genomic medicine2022
Identification of nine novel variants across PAX3, SOX10, EDNRB, and MITF genes in Waardenburg syndrome with next-generation sequencing.
Article in Molecular genetics & genomic medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 1 of them a synthesis that pooled it.
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Who cites it
7 citing papers in PubMed, 1 synthesis or guideline pooled it, 15 citations in OpenAlex.
- Auditory and speech outcomes of cochlear implantation in patients with Waardenburg syndrome: a meta-analysis.Frontiers in neurology · 2024Pooled it
- Total colonic aganglionosis: a bibliometric analysis of trends and themes (1978-2024).Orphanet journal of rare diseases · 2026Article
- Mild features of partialFrontiers in pediatrics · 2025Article
- A novel frameshift variant ofFrontiers in genetics · 2025Article
- Identification of the Mitf gene mutation causing congenital deafness and pigmentation disorders in porcupines using BSA-Seq.Scientific reports · 2024Article
- Loss of Pax3 causes reduction of melanocytes in the developing mouse cochlea.Scientific reports · 2024Article
- Identification of nine novel variants across PAX3, SOX10, EDNRB, and MITF genes in Waardenburg syndrome with next-generation sequencing.Molecular genetics & genomic medicine · 2022Article
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
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Abstract
backgroundWaardenburg syndrome (WS) is a hereditary, genetically heterogeneous disorder characterized by variable presentations of sensorineural hearing impairment and pigmentation anomalies. This study aimed to investigate the clinical features of WS in detail and determine the genetic causes of patients with clinically suspected WS.
methodsA total of 24 patients from 21 Han-Taiwanese families were enrolled and underwent comprehensive physical and audiological examinations. We applied targeted next-generation sequencing (NGS) to investigate the potential causative variants in these patients and further validated the candidate variants through Sanger sequencing.
resultsWe identified 19 causative variants of WS in our cohort. Of these variants, nine were novel and discovered in PAX3, SOX10, EDNRB, and MITF genes, including missense, nonsense, deletion, and splice site variants. Several patients presented with skeletal deformities, hypotonia, megacolon, and neurological disorders that were rarely seen in WS.
conclusionThis study revealed highly phenotypic variability in Taiwanese WS patients and demonstrated that targeted NGS allowed us to clarify the genetic diagnosis and extend the genetic variant spectrum of WS.
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