ArticleMolecular genetics & genomic medicine2021
Identification of novel MITF mutations in Chinese families with Waardenburg syndrome type II.
Article in Molecular genetics & genomic medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3 citing papers in PubMed, 5 citations in OpenAlex.
- Novel mutation leading to splice donor loss in a conserved site ofJournal of medical genetics · 2024Article
- [Analysis of molecular genetics and clinical characteristics of 3 children with Waardenburg syndrome].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2023Article
- Identification of novel MITF mutations in Chinese families with Waardenburg syndrome type II.Molecular genetics & genomic medicine · 2021Article
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Authors and funding
11 authors at 2 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundWaardenburg syndrome (WS) is a rare autosomal-dominant syndrome and is characterized by sensorineural hearing loss and pigment abnormalities. It is subdivided into four types according to the clinical characteristics. MITF is one of the major pathogenic genes for type II. The aim of this study was to investigate MITF mutations and the clinical characteristics of WS type 2 (WS2) in four Chinese families.
methodClinical diagnoses were based on detailed clinical findings. Six WS2 patients from four unrelated Chinese families were enrolled. Massively parallel DNA sequencing was used to find pathogenic genes and Sanger sequencing was used to confirm the variants detected.
resultsSensorineural hearing loss was observed in four of six patients, three had heterochromia iridis, and five have freckled faces. We identified three novel MITF heterozygous mutations (c.831dupC, c.650G>A, and c.711-2A>G) and one recurrent heterozygous mutation (c.328C>T) in the four WS2 families. Intra-familial phenotypic variability and incomplete penetrance were found in WS2 patients with pathogenic variants of MITF.
conclusionGenetic diagnosis was performed for the involved four families based on the clinical manifestations. Four heterozygous mutations were identified in the MITF gene. Our findings expanded the phenotypic and genotypic spectrum of WS.
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