Identification of a novel heterozygous mutation in the MITF gene in an Iranian family with Waardenburg syndrome type II using next-generation sequencing.
Clinical histopathological features and CDKN2A/CDK4/MITF mutational status of patients with multiple primary melanomas from Bologna: Italy is a fascinating but complex mosaic.
A novel MITF mutation along with a previously described MYO15A mutation segregate with an autosomal recessive non-syndromic Hearing loss (HL) case with a post-lingual onset. The findings highlight the importance of carrying whole exome sequencing for a comprehensive assessment of HL genetic heterogeneity
Our study revealed a likely association between homozygous mutations in MITF and Waardenburg syndrome type 4 (WS4) which implies a dosage effect for the underlying pathogenesis mechanism.
The present study reports a novel mutation c.718C>G; p. (Arg240Gly) in the melanogenesis associated transcription factor gene in Han people with hearing loss.
The above observations support the idea that primary and metastatic melanomas comprise not only MITF-high and MITF-low cells but also subpopulations expressing markers of both signatures. Combinations of the three cell populations may be adjacent or intermixed contributing to the spatial heterogeneity of the tumors.
description of a syndrome termed COMMAD characterized by coloboma osteopetrosis microphthalmia macrocephaly albinism and deafness; COMMAD is associated with biallelic MITF mutant alleles and hence suggests a role for MITF in regulating processes such as optic-fissure closure and bone development or homeostasis which go beyond what is usually seen in individuals carrying monoallelic MITF mutations
we identified two novel MITF mutations in patients with TS/WS2A. Our results suggest that posterior microphthalmos might be part of the clinical characteristics of Tietz/Waardenburg syndrome type 2A and expand both the clinical and molecular spectrum of the disease.
The MITF p.E318K mutation does not appear to play a major role in sporadic renal cell carcinoma carcinogenesis but is possibly restricted to a rare subpopulation of inherited renal cell carcinoma
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