Open Access

Prenatal diagnosis and genetic counseling for Waardenburg syndrome type I and II in Chinese families

  • Authors:
    • Li Wang
    • Litao Qin
    • Tao Li
    • Hongjian Liu
    • Lingcao Ma
    • Wan Li
    • Dong Wu
    • Hongdan Wang
    • Qiannan Guo
    • Liangjie Guo
    • Shixiu Liao
  • View Affiliations

  • Published online on: October 25, 2017     https://doi.org/10.3892/mmr.2017.7874
  • Pages:172-178
  • Copyright: © Wang et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Waardenburg syndrome (WS) is an auditory‑pigmentary disorder with varying combinations of sensorineural hearing loss and abnormal pigmentation. The present study aimed to investigate the underlying molecular pathology and provide a method of prenatal diagnosis of WS in Chinese families. A total of 11 patients with WS from five unrelated Chinese families were enrolled. A thorough clinical examination was performed on all participants. Furthermore, patients with WS underwent screening for mutations in the following genes: Paired box 3 (PAX3), melanogenesis associated transcription factor (MITF), SRY‑box 10, snail family transcriptional repressor 2 and endothelin receptor type B using polymerase chain reaction sequencing. Array‑based comparative genomic hybridization was used for specific patients whose sequence results were normal. Following identification of the genotype of the probands and their parents, prenatal genetic diagnosis was performed for family 01 and 05. According to the diagnostic criteria for WS, five cases were diagnosed as WS1, while the other six cases were WS2. Genetic analysis revealed three mutations, including a nonsense mutation PAX3 c.583C>T in family 01, a splice‑site mutation MITF c.909G>A in family 03 and an in‑frame deletion MITF c.649_651delGAA in family 05. To the best of the authors' knowledge the mutations (c.583C>T in PAX3 and c.909G>A in MITF) were reported for the first time in Chinese people. Mutations in the gene of interest were not identified in family 02 and 04. The prenatal genetic testing of the two fetuses was carried out and demonstrated that the two babies were normal. The results of the present study expanded the range of known genetic mutations in China. Identification of genetic mutations in these families provided an efficient way to understand the causes of WS and improved genetic counseling.

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January 2018
Volume 17 Issue 1

Print ISSN: 1791-2997
Online ISSN:1791-3004

2016 Impact Factor: 1.692
Ranked #19/128 Medicine Research and Experimental
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APA
Wang, L., Qin, L., Li, T., Liu, H., Ma, L., Li, W. ... Liao, S. (2018). Prenatal diagnosis and genetic counseling for Waardenburg syndrome type I and II in Chinese families. Molecular Medicine Reports, 17, 172-178. https://doi.org/10.3892/mmr.2017.7874
MLA
Wang, L., Qin, L., Li, T., Liu, H., Ma, L., Li, W., Wu, D., Wang, H., Guo, Q., Guo, L., Liao, S."Prenatal diagnosis and genetic counseling for Waardenburg syndrome type I and II in Chinese families". Molecular Medicine Reports 17.1 (2018): 172-178.
Chicago
Wang, L., Qin, L., Li, T., Liu, H., Ma, L., Li, W., Wu, D., Wang, H., Guo, Q., Guo, L., Liao, S."Prenatal diagnosis and genetic counseling for Waardenburg syndrome type I and II in Chinese families". Molecular Medicine Reports 17, no. 1 (2018): 172-178. https://doi.org/10.3892/mmr.2017.7874