ArticleMolecular medicine reports2016
Clinical and genetic investigation of families with type II Waardenburg syndrome.
Article in Molecular medicine reports, 2016. 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, 14 citations in OpenAlex.
- Sox10 Gene Is Required for the Survival of Saccular and Utricular Hair Cells in a Porcine Model.Molecular neurobiology · 2022Article
- Waardenburg syndrome type 2A in a large Iranian family with a novel MITF gene mutation.BMC medical genomics · 2021Article
- DNA-based eyelid trait prediction in Chinese Han population.International journal of legal medicine · 2021Article
- Waardenburg syndrome type II in a Chinese pedigree caused by frameshift mutation in the SOX10 gene.Bioscience reports · 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
- A follow-up study of a Chinese family with Waardenburg syndrome type II caused by a truncating mutation of MITF gene.Molecular genetics & genomic medicine · 2020Article
- A rare case of Waardenburg syndrome with unilateral hearing loss caused by nonsense variant c.772C>T (p.Arg259*) in theInternational journal of circumpolar health · 2019Article
- Waardenburg syndrome type 2.Medical journal, Armed Forces India · 2018Article
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The present study aimed to investigate the molecular pathology of Waardenburg syndrome type II in three families, in order to provide genetic diagnosis and hereditary counseling for family members. Relevant clinical examinations were conducted on the probands of the three pedigrees. Peripheral blood samples of the probands and related family members were collected and genomic DNA was extracted. The coding sequences of paired box 3 (PAX3), microphthalmia‑associated transcription factor (MITF), sex‑determining region Y‑box 10 (SOX10) and snail family zinc finger 2 (SNAI2) were analyzed by polymerase chain reaction and DNA sequencing. The heterozygous mutation, c.649_651delAGA in exon 7 of the MITF gene was detected in the proband and all patients of pedigree 1; however, no pathological mutation of the relevant genes (MITF, SNAI2, SOX10 or PAX3) was detected in pedigrees 2 and 3. The heterozygous mutation c.649_651delAGA in exon 7 of the MITF gene is therefore considered the disease‑causing mutation in pedigree 1. However, there are novel disease‑causing genes in Waardenburg syndrome type II, which require further research.
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