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Experimental and Therapeutic Medicine
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Print ISSN: 1792-0981 Online ISSN: 1792-1015
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April-2016 Volume 11 Issue 4

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Case Report

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 / Copyright

    Affiliations: Medical Genetic Laboratory, Department of Obstetrics and Gynecology, Tianjin Medical University General Hospital, Tianjin 300052, P.R. China
  • Pages: 1516-1518
    |
    Published online on: February 1, 2016
       https://doi.org/10.3892/etm.2016.3042
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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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Copy and paste a formatted citation
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
Copy and paste a formatted citation
x
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
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