Identification of a novel heterozygous mutation in the MITF gene in an Iranian family with Waardenburg syndrome type II using next-generation sequencing

Background: Waardenburg syndrome (WS) is a genetically heterogeneous syndrome with both autosomal recessive and dominant inheritance. WS causes skin and iris pigmentation accumulation and sensorineural hearing loss, in varying degrees. There are four WS types with different characteristics. WS1 and...

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Bibliographic Details
Main Authors:	Javanshir, N. (Author), Nasirshalal, M. (Author), Panahi, M. (Author), Salmani, H. (Author)
Format:	Article
Language:	English
Published:	John Wiley and Sons Inc 2021
Subjects:	adult Adult Article autosomal dominant disorder bilateral hearing loss case report clinical article congenital deafness exon female Female genetics heterozygote Heterozygote high throughput sequencing High-Throughput Nucleotide Sequencing human Humans Iran Iranian people male Male microphthalmia associated transcription factor microphthalmia associated transcription factor gene Microphthalmia-Associated Transcription Factor middle aged Middle Aged MITF gene MITF protein, human mutation Mutation nonsense mediated mRNA decay nonsense mutation pathology pedigree Pedigree pedigree analysis phenotype Phenotype premature stop codon procedures prognosis Prognosis Sanger sequencing stop codon type 2A Waardenburg syndrome Waardenburg Syndrome WES whole exome sequencing young adult Young Adult
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Identification of a novel heterozygous mutation in the MITF gene in an Iranian family with Waardenburg syndrome type II using next-generation sequencing

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