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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 / Copyright

    Affiliations: Institute of Medical Genetics, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, Zhengzhou, Henan 450003, P.R. China, Department of Otorhinolaryngology, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, Zhengzhou, Henan 450003, P.R. China
    Copyright: © Wang et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Pages: 172-178
    |
    Published online on: October 25, 2017
       https://doi.org/10.3892/mmr.2017.7874
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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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1 

Zaman A, Capper R and Baddoo W: Waardenburg syndrome: More common than you think! Clin Otolaryngol. 40:44–48. 2015. View Article : Google Scholar : PubMed/NCBI

2 

Read AP and Newton VE: Waardenburg syndrome. J Med Genet. 34:656–665. 1997. View Article : Google Scholar : PubMed/NCBI

3 

Baxter LL, Hou L, Loftus SK and Pavan WJ: Spotlight on spotted mice: A review of white spotting mouse mutants and associated human pigmentation disorders. Pigment Cell Res. 17:215–224. 2004. View Article : Google Scholar : PubMed/NCBI

4 

Mollaaghababa R and Pavan WJ: The importance of having your SOX on: Role of SOX10 in the development of neural crest-derived melanocytes and glia. Oncogene. 22:3024–3034. 2003. View Article : Google Scholar : PubMed/NCBI

5 

Pingault V, Ente D, Dastot-Le Moal F, Goossens M, Marlin S and Bondurand N: Review and update of mutations causing Waardenburg syndrome. Hum Mutat. 31:391–406. 2010. View Article : Google Scholar : PubMed/NCBI

6 

Song J, Feng Y, Acke FR, Coucke P, Vleminckx K and Dhooge IJ: Hearing loss in Waardenburg syndrome: A systematic review. Clin Genet. Jun 22–2016.(Epub ahead of print). View Article : Google Scholar

7 

DeStefano AL, Cupples LA, Arnos KS, Asher JH Jr, Baldwin CT, Blanton S, Carey ML, da Silva EO, Friedman TB, Greenberg J, et al: Correlation on between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations. Hum Genet. 102:499–506. 1998. View Article : Google Scholar : PubMed/NCBI

8 

Tassabehji M, Newton VE, Liu XZ, Brady A, Donnai DK, ajewska-Walasek M, Murday V, Norman A, Obersztyn E, Reardon W, et al: The mutational spectrum in Waardenburg syndrome. Hum Mol Genet. 4:2131–2137. 1995. View Article : Google Scholar : PubMed/NCBI

9 

Wollnik B, Tukel T, Uyguner O, Ghanbari A, Kayserili H, Emiroglu M and Yuksel-Apak M: Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome. Am J Med Genet A. 122A:42–45. 2003. View Article : Google Scholar : PubMed/NCBI

10 

Shibahara S, Takeda K, Yasumoto K, Udono T, Watanabe K, Saito H and Takahashi K: Microphthalmia-associated transcription factor (MITF): Multiplicity in structure, function, and regulation. J Invest Derm Symp Proc. 6:99–104. 2001. View Article : Google Scholar

11 

Grill C, Bergsteinsdottir K, Ogmundsdóttir MH, Pogenberg V, Schepsky A, Wilmanns M, Pingault V and Steingrimsson E: MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function. Hum Mol Genet. 22:357–4367. 2013. View Article : Google Scholar

12 

Tassabehji M, Newton VE and Read AP: Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene. Nat Genet. 8:251–255. 1994. View Article : Google Scholar : PubMed/NCBI

13 

Sánchez-Martín M, Rodríguez-García A, Pérez-Losada J, Sagrera A, Read AP and Sánchez-García I: SLUG (SNAI2) deletions in patients with Waardenburg disease. Hum Mol Genet. 11:3231–3236. 2002. View Article : Google Scholar : PubMed/NCBI

14 

Jabeen R, Babar ME, Ahmad J and Awan AR: Novel mutations of endothelin-B receptor gene in Pakistani patients with Waardenburg syndrome. Mol Biol Rep. 39:785–788. 2012. View Article : Google Scholar : PubMed/NCBI

15 

Farrer LA, Grundfast KM, Amos J, Arnos KS, Asher JH Jr, Beighton P, Diehl SR, Fex J, Foy C, Friedman TB, et al: Waardenburg syndrome (Ws) type-I is caused by defects at multiple Loci, one of which is near alpp on chromosome-2-1st report of the Ws consortium. Am J Hum Genet. 50:902–913. 1992.PubMed/NCBI

16 

Brenner L, Burke K, Leduc CA, Guha S, Guo J and Chung WK: Novel splice mutation in microthalmia-associated transcription factor in Waardenburg Syndrome. Genet Test Mol Biomarkers. 15:525–529. 2011. View Article : Google Scholar : PubMed/NCBI

17 

Chen H, Jiang L, Xie Z, Mei L, He C, Hu Z, Xia K and Feng Y: Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type I or type II Waardenburg syndrome. Biochem Biophys Res Commun. 397:70–74. 2010. View Article : Google Scholar : PubMed/NCBI

18 

Jiang L, Chen H, Jiang W, Hu Z, Mei L, Xue J, He C, Liu Y, Xia K and Feng Y: Novel mutations in the SOX10 gene in the first two Chinese cases of type IV Waardenburg syndrome. Biochem Biophys Res Commun. 408:620–624. 2011. View Article : Google Scholar : PubMed/NCBI

19 

Yang S, Dai P, Liu X, Kang D, Zhang X, Yang W, Zhou C, Yang S and Yuan H: Genetic and phenotypic heterogeneity in Chinese patients with Waardenburg syndrome type II. PLoS One. 8:e771492013. View Article : Google Scholar : PubMed/NCBI

20 

Nayak CS and Isaacson G: Worldwide distribution of Waardenburg syndrome. Ann Oto Rhinol Laryn. 112:817–820. 2003. View Article : Google Scholar

21 

Liu X, Newton V and Read A: Hearing loss and pigmentary disturbances in Waardenburg syndrome with reference to WS type II. J Laryngol Otol. 109:96–100. 1995. View Article : Google Scholar : PubMed/NCBI

22 

Drozniewska M and Haus O: PAX3 gene deletion detected by microarray analysis in a girl with hearing loss. Mol Cytogenet. 7:302014. View Article : Google Scholar : PubMed/NCBI

23 

Berlin I, Denat L, Steunou AL, Puig I, Champeval D, Colombo S, Roberts K, Bonvin E, Bourgeois Y, Davidson I, et al: Phosphorylation of BRN2 modulates its interaction with the Pax3 promoter to control melanocyte migration and proliferation. Mol Cell Biol. 32:1237–1247. 2012. View Article : Google Scholar : PubMed/NCBI

24 

Degenhardt KR, Milewski RC, Padmanabhan A, Miller M, Singh MK, Lang D, Engleka KA, Wu ML, Li J, Zhou D, et al: Distinct enhancers at the Pax3 locus can function redundantly to regulate neural tube and neural crest expressions. Dev Biol. 339:519–527. 2010. View Article : Google Scholar : PubMed/NCBI

25 

Takeda K, Takemoto C, Kobayashi I, Watanabe A, Nobukuni Y, Fisher DE and Tachibana M: Ser298 of MITF, a mutation site in Waardenburg syndrome type 2, is a phosphorylation site with functional significance. Hum Mol Genet. 9:125–132. 2000. View Article : Google Scholar : PubMed/NCBI

26 

Wildhardt G, Zirn B, Graul-Neumann LM, Wechtenbruch J, Suckfüll M, Buske A, Bohring A, Kubisch C, Vogt S, Strobl-Wildemann G, et al: Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: Implications for molecular genetic diagnostics. Bmj Open. 3:pii: e001917. 2013. View Article : Google Scholar : PubMed/NCBI

27 

Millan JM, Aller E, Jaijo T, Grau E, Beneyto M and Najera C: Genetic counselling in visual and auditory disorders. Arch Soc Esp Oftalmol. 83:689–702. 2008.(In Spanish). PubMed/NCBI

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Copy and paste a formatted citation
Spandidos Publications style
Wang L, Qin L, Li T, Liu H, Ma L, Li W, Wu D, Wang H, Guo Q, Guo L, Guo L, et al: Prenatal diagnosis and genetic counseling for Waardenburg syndrome type I and II in Chinese families. Mol Med Rep 17: 172-178, 2018.
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
Copy and paste a formatted citation
x
Spandidos Publications style
Wang L, Qin L, Li T, Liu H, Ma L, Li W, Wu D, Wang H, Guo Q, Guo L, Guo L, et al: Prenatal diagnosis and genetic counseling for Waardenburg syndrome type I and II in Chinese families. Mol Med Rep 17: 172-178, 2018.
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
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