A novel mutation of the MITF gene in a family with Waardenburg syndrome type 2: A case report

  • Authors:
    • Yunfang Shi
    • Xiaozhou Li
    • Duan Ju
    • Yan Li
    • Xiuling Zhang
    • Ying Zhang
  • View Affiliations

  • Published online on: February 1, 2016     https://doi.org/10.3892/etm.2016.3042
  • Pages: 1516-1518
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Abstract

Waardenburg syndrome (WS) is an autosomal dominant disorder with varying degrees of sensorineural hearing loss, and accumulation of pigmentation in hair, skin and iris. There are four types of WS (WS1-4) with differing characteristics. Mutations in six genes [paired box gene 3 (PAX3), microphthalmia-associated transcription factor (MITF), endothelin 3 (END3), endothelin receptor type B (EDNRB), SRY (sex determining region Y)-box 10 (SOX10) and snail homolog 2 (SNAI2)] have been identified to be associated with the various types. This case report describes the investigation of genetic mutations in three patients with WS2 from a single family. Genomic DNA was extracted, and the six WS-related genes were sequenced using next-generation sequencing technology. In addition to mutations in PAX3, EDNRB and SOX10, a novel heterozygous MITF mutation, p.Δ315Arg (c.944_946delGAA) on exon 8 was identified. This is predicted to be a candidate disease-causing mutation that may affect the structure and function of the enzyme.
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April-2016
Volume 11 Issue 4

Print ISSN: 1792-0981
Online ISSN:1792-1015

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Spandidos Publications style
Shi Y, Li X, Ju D, Li Y, Zhang X and Zhang Y: A novel mutation of the MITF gene in a family with Waardenburg syndrome type 2: A case report. Exp Ther Med 11: 1516-1518, 2016
APA
Shi, Y., Li, X., Ju, D., Li, Y., Zhang, X., & Zhang, Y. (2016). A novel mutation of the MITF gene in a family with Waardenburg syndrome type 2: A case report. Experimental and Therapeutic Medicine, 11, 1516-1518. https://doi.org/10.3892/etm.2016.3042
MLA
Shi, Y., Li, X., Ju, D., Li, Y., Zhang, X., Zhang, Y."A novel mutation of the MITF gene in a family with Waardenburg syndrome type 2: A case report". Experimental and Therapeutic Medicine 11.4 (2016): 1516-1518.
Chicago
Shi, Y., Li, X., Ju, D., Li, Y., Zhang, X., Zhang, Y."A novel mutation of the MITF gene in a family with Waardenburg syndrome type 2: A case report". Experimental and Therapeutic Medicine 11, no. 4 (2016): 1516-1518. https://doi.org/10.3892/etm.2016.3042