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Article

Association between genotype and phenotype of virulence gene in Van der Woude syndrome families

  • Authors:
    • Shouxia Li
    • Xueqiang Zhang
    • Dingli Chen
    • Wei Zhao
    • Xiaofang Zhang
    • Jianjun Jiao
    • Lili Guo
    • Lei Yin
    • Xuedong Song
    • Chun Liang
    • Caixia Sun
  • View Affiliations / Copyright

    Affiliations: Department of Clinical Laboratory, Handan Central Hospital, Handan, Hebei 056001, P.R. China, First School of Clinical Medicine, Southern Medical University, Guangzhou, Guangdong 510515, P.R. China
  • Pages: 1241-1246
    |
    Published online on: November 6, 2017
       https://doi.org/10.3892/mmr.2017.7978
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Abstract

Members from two Van der Woude syndrome (VWS) families were screened to determine the prevalence of interferon regulatory factor 6 (IRF6) as a disease‑causing gene and to analyze the interrelationships between patient genotype and phenotype. The peripheral blood of 24 members from two VWS families and 200 control samples were collected. The family members were interviewed for medical histories and other clinical abnormalities using questionnaires. Polymerase chain reaction was directly performed on the peripheral blood to screen for the coding region of the IRF6 gene. Of the 24 family members, a total of 6 patients had mutations of IRF6 gene. c.1234C>T (p.R412X) heterozygous mutation was detected in 3 members of family 1. In families 2 and 3, members carried the c.1210G>A (p.E404K) heterozygous mutations. The other members of the families, were wild type (wt/wt) for IRF6. Genetic testing demonstrated that the disease mutations c.1234C>T and c.1210G>A co‑segregated with the two families' pathogenic mutations. The existence of genetic heterogeneity and the complexity of the clinical phenotype was demonstrated in Chinese VWS patients.
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1 

Schutte BC, Bjork BC, Coppage KB, Malik MI, Gregory SG, Scott DJ, Brentzell LM, Watanabe Y, Dixon MJ and Murray JC: A preliminary gene map for the Van der Woude syndrome critical region derived from 900 kb of genomic sequence at 1q32-q41. Genome Res. 10:81–94. 2000.PubMed/NCBI

2 

Kondo S, Schutte BC, Richardson RJ, Bjork BC, Knight AS, Watanabe Y, Howard E, de Lima RL, Daack-Hirsch S, Sander A, et al: Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nat Genet. 32:285–289. 2002. View Article : Google Scholar : PubMed/NCBI

3 

Burdick AB: Genetic epidemiology and control of genetic expression in van der Woude syndrome. J Craniofac Genet Dev Biol Suppl. 2:99–105. 1986.PubMed/NCBI

4 

Pingul MM and Quintos JB: Van der woude syndrome (lip pit-cleft lip syndrome). J Pediatr. 164:12352014. View Article : Google Scholar : PubMed/NCBI

5 

Peyrard-Janvid M, Pegelow M, Koillinen H, Larsson C, Fransson I, Rautio J, Hukki J, Larson O, Karsten AL and Kere J: Novel and de novo mutations of the IRF6 gene detected in patients with Van der Woude or popliteal pterygium syndrome. Eur J Hum Genet. 13:1261–1267. 2005. View Article : Google Scholar : PubMed/NCBI

6 

Mijiti A, Ling W, Guli and Moming A: Association of single-nucleotide polymorphisms in the IRF6 gene with non-syndromic cleft lip with or without cleft palatein the Xinjiang Uyghur population. Br J Oral Maxillofac Surg. 53:268–274. 2015. View Article : Google Scholar : PubMed/NCBI

7 

XQ Ye, Zhou B and Jin H: Clinical and genetic features in five chinese kindreds with Van der Woude syndrome. Med J Wuhan University. 26:609–611. 2005.

8 

Burdick AB, Bixler D and Puckett CL: Genetic analysis in families with van der Woude syndrome. J Craniofac Genet Dev Biol. 5:181–208. 1985.PubMed/NCBI

9 

Hersh JH and Verdi GD: Natal teeth in monozygotic twins with Van der Woude syndrome. Cleft Palate Craniofac J. 29:279–281. 1992. View Article : Google Scholar : PubMed/NCBI

10 

Dixon MJ, Marazita ML, Beaty TH and Murray JC: Cleft lip and palate: Understanding genetic and environmental influences. Nat Rev Genet. 12:167–178. 2011. View Article : Google Scholar : PubMed/NCBI

11 

Van Der Woude A: Fistula labii inferioris congenita and its association with cleft lip and palate. Am J Hum Genet. 6:244–256. 1954.PubMed/NCBI

12 

Bocian M and Walker AP: Lip pits and deletion 1q32-41. Am J Med Genet. 26:437–443. 1987. View Article : Google Scholar : PubMed/NCBI

13 

Zhou Q, Li M, Zhu W, Guo J, Wang Y, Li Y and Li S: Association between interferon regulatory factor 6 gene polymorphisms and nonsyndromic cleft lip with or without cleft palate in a Chinese population. Cleft Palate Craniofac J. 50:570–576. 2013. View Article : Google Scholar : PubMed/NCBI

14 

Leslie EJ, Standley J, Compton J, Bale S, Schutte BC and Murray JC: Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases. Genet Med. 15:338–344. 2013. View Article : Google Scholar : PubMed/NCBI

15 

Eroshkin A and Mushegian A: Conserved transactivation domain shared by interferon regulatory factors and Smad morphogens. J Mol Med (Berl). 77:403–405. 1999. View Article : Google Scholar : PubMed/NCBI

16 

Mamane Y, Heylbroeck C, Génin P, Algarté M, Servant MJ, LePage C, DeLuca C, Kwon H, Lin R and Hiscott J: Interferon regulatory factors: The next generation. Gene. 237:1–14. 1999. View Article : Google Scholar : PubMed/NCBI

17 

Houweling AC, Gille JJ, Baart JA, van Hagen JM and Lachmeijer AM: Variable phenotypic manifestation of IRF6 mutations in the Van der Woude syndrome and popliteal pterygium syndrome: Implications for genetic counseling. Clin Dysmorphol. 18:225–227. 2009. View Article : Google Scholar : PubMed/NCBI

18 

de Lima RL, Hoper SA, Ghassibe M, Cooper ME, Rorick NK, Kondo S, Katz L, Marazita ML, Compton J, Bale S, et al: Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome. Genet Med. 11:241–247. 2009. View Article : Google Scholar : PubMed/NCBI

19 

Salahshourifar I, Sulaiman Wan WA, Halim AS and Zilfalil BA: Mutation screening of IRF6 among families with non-syndromic oral clefts and identification of two novel variants: Review of the literature. Eur J Med Genet. 55:389–393. 2012. View Article : Google Scholar : PubMed/NCBI

20 

Soekarman D, Cobben JM, Vogels A, Spauwen PH and Fryns JP: Variable expression of the popliteal pterygium syndrome in two 3-generation families. Clin Genet. 47:169–174. 1995. View Article : Google Scholar : PubMed/NCBI

21 

Marazita ML, Lidral AC, Murray JC, Field LL, Maher BS, Goldstein McHenry T, Cooper ME, Govil M, Daack-Hirsch S, Riley B, et al: Genome scan, fine-maping, and candidate gene analysis of non-syndomic cleft lip with or without cleft palate reveals phenotype-sppecific diferences in linkage and association results. Hum Hered. 68:151–170. 2009. View Article : Google Scholar : PubMed/NCBI

22 

Jugessur A, Shi M, Gjessing HK, Lie RT, Wilcox AJ, Weinberg CR, Christensen K, Boyles AL, Daack-Hirsch S, Nguyen TT, et al: Fetal genetic risk of isolated cleft lip only (CLO) versus isolated cleft lip and palate (CLP): A sub-phenotype analysis usingtwo population-based studies of orofacial clefts in Scandinavia. Birth Defects Res A Clin Mol Teratol. 91:85–92. 2011. View Article : Google Scholar : PubMed/NCBI

23 

de la Garza G, Schleiffarth JR, Dunnwald M, Mankad A, Weirather JL, Bonde G, Butcher S, Mansour TA, Kousa YA, Fukazawa CF, et al: Interferon regulatory factor6 promotes differentiation of the peridermby activating expression of Grainyhead-like 3. J Invest Dermatol. 133:68–77. 2013. View Article : Google Scholar : PubMed/NCBI

24 

Peyrard-Janvid M, Leslie EJ, Kousa YA, Smith TL, Dunnwald M, Magnusson M, Lentz BA, Unneberg P, Fransson I, Koillinen HK, et al: Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development. Am J Hum Genet. 94:23–32. 2014. View Article : Google Scholar : PubMed/NCBI

25 

Tan EC, Lim EC, Yap SH, Lee ST, Cheng J, Por YC and Yeow V: Identification of IRF6 gene variants in three families with Van der Woude syndrome. Int J Mol Med. 21:747–751. 2008.PubMed/NCBI

26 

Morton NE: Sequential tests for the detection of linkage. Am J Hum Genet. 7:277–318. 1955.PubMed/NCBI

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Copy and paste a formatted citation
Spandidos Publications style
Li S, Zhang X, Chen D, Zhao W, Zhang X, Jiao J, Guo L, Yin L, Song X, Liang C, Liang C, et al: Association between genotype and phenotype of virulence gene in Van der Woude syndrome families. Mol Med Rep 17: 1241-1246, 2018.
APA
Li, S., Zhang, X., Chen, D., Zhao, W., Zhang, X., Jiao, J. ... Sun, C. (2018). Association between genotype and phenotype of virulence gene in Van der Woude syndrome families. Molecular Medicine Reports, 17, 1241-1246. https://doi.org/10.3892/mmr.2017.7978
MLA
Li, S., Zhang, X., Chen, D., Zhao, W., Zhang, X., Jiao, J., Guo, L., Yin, L., Song, X., Liang, C., Sun, C."Association between genotype and phenotype of virulence gene in Van der Woude syndrome families". Molecular Medicine Reports 17.1 (2018): 1241-1246.
Chicago
Li, S., Zhang, X., Chen, D., Zhao, W., Zhang, X., Jiao, J., Guo, L., Yin, L., Song, X., Liang, C., Sun, C."Association between genotype and phenotype of virulence gene in Van der Woude syndrome families". Molecular Medicine Reports 17, no. 1 (2018): 1241-1246. https://doi.org/10.3892/mmr.2017.7978
Copy and paste a formatted citation
x
Spandidos Publications style
Li S, Zhang X, Chen D, Zhao W, Zhang X, Jiao J, Guo L, Yin L, Song X, Liang C, Liang C, et al: Association between genotype and phenotype of virulence gene in Van der Woude syndrome families. Mol Med Rep 17: 1241-1246, 2018.
APA
Li, S., Zhang, X., Chen, D., Zhao, W., Zhang, X., Jiao, J. ... Sun, C. (2018). Association between genotype and phenotype of virulence gene in Van der Woude syndrome families. Molecular Medicine Reports, 17, 1241-1246. https://doi.org/10.3892/mmr.2017.7978
MLA
Li, S., Zhang, X., Chen, D., Zhao, W., Zhang, X., Jiao, J., Guo, L., Yin, L., Song, X., Liang, C., Sun, C."Association between genotype and phenotype of virulence gene in Van der Woude syndrome families". Molecular Medicine Reports 17.1 (2018): 1241-1246.
Chicago
Li, S., Zhang, X., Chen, D., Zhao, W., Zhang, X., Jiao, J., Guo, L., Yin, L., Song, X., Liang, C., Sun, C."Association between genotype and phenotype of virulence gene in Van der Woude syndrome families". Molecular Medicine Reports 17, no. 1 (2018): 1241-1246. https://doi.org/10.3892/mmr.2017.7978
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