ArticleJournal of human genetics2017
Functional analysis of a nonstop mutation in MITF gene identified in a patient with Waardenburg syndrome type 2.
Article in Journal of human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 21 citations in OpenAlex.
- A predictive framework for stop-loss variants with C-terminal extensions.Nucleic acids research · 2026Article
- Massive mutagenesis reveals an incomplete amyloid motif in Bri2 that turns amyloidogenic upon C-terminal extension.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Nonstop mutations cause loss of renal tumor suppressor proteinsScience advances · 2025Article
- Identification of a novel homozygousFrontiers in genetics · 2025Article
- Suppressive cancer nonstop extension mutations increase C-terminal hydrophobicity and disrupt evolutionarily conserved amino acid patterns.Nature communications · 2024Article
- Review
- Identification and in vivo functional investigation of a HOMER2 nonstop variant causing hearing loss.European journal of human genetics : EJHG · 2023Article
- The Regulation of MiTF/TFE Transcription Factors Across Model Organisms: from Brain Physiology to Implication for Neurodegeneration.Molecular neurobiology · 2022Review
- Waardenburg syndrome type 4 coexisting with open-angle glaucoma: a case report.Journal of medical case reports · 2022Article
- 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
- Frameshift variant in MITF gene in a large family with Waardenburg syndrome type II and a co-segregation of a C2orf74 variant.PloS one · 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 pan-cancer analysis reveals nonstop extension mutations causing SMAD4 tumour suppressor degradation.Nature cell biology · 2020Article
- Dystrophia canthorum in Waardenburg syndrome with a novelInternational journal of ophthalmology · 2020Article
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Authors and funding
11 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Waardenburg syndrome (WS) is an autosomal dominant inherited neurogenic disorder with the combination of various degrees of sensorineural deafness and pigmentary abnormalities affecting the skin, hair and eye. The four subtypes of WS were defined on the basis of the presence or absence of additional symptoms. Mutation of human microphthalmia-associated transcription factor (MITF) gene gives rise to WS2. Here, we identified a novel WS-associated mutation at the stop codon of MITF (p.X420Y) in a Chinese WS2 patient. This mutation resulted in an extension of extra 33 amino-acid residues in MITF. The mutant MITF appeared in both the nucleus and the cytoplasm, whereas the wild-type MITF was localized in the nucleus exclusively. The mutation led to a reduction in the transcriptional activities, whereas the DNA-binding activity was not altered. We show that the foremost mechanism was haploinsufficiency for the mild phenotypes of WS2 induced in X420Y MITF.
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