ArticleMolecular genetics & genomic medicine2020
Identification of six novel variants in Waardenburg syndrome type II by next-generation sequencing.
Article in Molecular genetics & genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers, 1 of them a synthesis that pooled it.
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Who cites it
6 citing papers in PubMed, 1 synthesis or guideline pooled it, 7 citations in OpenAlex.
- Genetics of Waardenburg Syndrome in Africa: A Systematic Review.International journal of molecular sciences · 2025Pooled it
- Comprehensive Approach for the Genetic Diagnosis of Patients with Waardenburg Syndrome.Journal of personalized medicine · 2024Article
- Waardenburg syndrome type 2A in a large Iranian family with a novel MITF gene mutation.BMC medical genomics · 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
- Four mutations in MITF, SOX10 and PAX3 genes were identified as genetic causes of waardenburg syndrome in four unrelated Iranian patients: case report.BMC pediatrics · 2021Article
- Identification of six novel variants in Waardenburg syndrome type II by next-generation sequencing.Molecular genetics & genomic medicine · 2020Article
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundWaardenburg syndrome (WS) is a dominantly inherited, genetically heterogeneous auditory-pigmentary syndrome characterized by nonprogressive sensorineural hearing loss and iris discoloration. This study aimed to investigate the underlying molecular pathology in Chinese WS families.
methodsA total of 13 patients with Waardenburg syndrome type II (WS2) from six unrelated Chinese families were enrolled. We investigated the mutation profile of genes related to congenital deafness in these families through a targeted sequencing technology and validated the candidate variants by Sanger sequencing.
resultsWe identified six novel variants in microphthalmia-associated transcription factor (MITF) and SRY-box 10 (SOX10), which were predicted to be disease causing by in silico analysis. Our results showed that mutations in SOX10 and MITF are two major causes of deafness associated with WS, and de novo mutations were frequently found in probands with SOX10 mutations but not in those with MITF mutations.
conclusionResults showed that targeted next-generation sequencing (NGS) enabled us to detect disease-causing mutations with high accuracy, stability, speed and throughput. Our study extends the pathogenic mutation spectrum of MITF and SOX10.
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