Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases

Genetics in Medicine

Volumn 15, Issue 5, 2013, Pages 338-344

  Leslie, Elizabeth J ^a   Standley, Jennifer ^a   Compton, John ^b   Bale, Sherri ^b   Schutte, Brian C ^c,d   Murray, Jeffrey C ^a  

^a UNIVERSITY OF IOWA   (United States)

^b GENEDX   (United States)

^c Michigan State University ^*  (United States)

^d MICHIGAN STATE UNIVERSITY   (United States)

Author keywords

cleft; exome; mutation; popliteal pterygium; Van der Woude

Indexed keywords

INTERFERON REGULATORY FACTOR 6;

ARTICLE; COMPARATIVE STUDY; CPG ISLAND; DNA BINDING; EXOME; FALSE NEGATIVE RESULT; FRAMESHIFT MUTATION; GENE DELETION; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; GENETIC VARIABILITY; HUMAN; META ANALYSIS; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; POPLITEAL PTERYGIUM SYNDROME; PROBABILITY; PROTEIN DOMAIN; REFERENCE DATABASE; SYSTEMATIC REVIEW; VAN DER WOUDE SYNDROME; WEBBED NECK;

EID: 84877281682     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2012.141     Document Type: Article

References (32)

1. Consortium TGP. A map of human genome variation from population-scale sequencing. Nature 2010;467:1061-1073.
2. Exome Variant Server. http://snp.gs.washington.edu/EVS/. Accessed September, 2011.
3. Cohen MM Jr, Bankier A. Syndrome delineation involving orofacial clefting. Cleft Palate Craniofac J 1991;28:119-120.
4. Murray JC, Daack-Hirsch S, Buetow KH, et al. Clinical and epidemiologic studies of cleft lip and palate in the Philippines. Cleft Palate Craniofac J 1997;34:7-10.
5. Van Der Woude A. Fistula labii inferioris congenita and its association with cleft lip and palate. Am J Hum Genet 1954;6:244-256.
6. Burdick AB, Bixler D, Puckett CL. Genetic analysis in families with van der Woude syndrome. J Craniofac Genet Dev Biol 1985;5:181-208.
7. Kondo S, Schutte BC, Richardson RJ, et al. Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nat Genet 2002;32:285-289.
8. Gorlin RJ, Sedano HO, Cervenka J. Popliteal pterygium syndrome. A syndrome comprising cleft lip-palate, popliteal and intercrural pterygia, digital and genital anomalies. Pediatrics 1968;41:503-509.
9. de Lima RL, Hoper SA, Ghassibe M, 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 2009;11:241-247.
10. Brosch S, Baur M, Blin N, Reinert S, Pfister M. A novel IRF6 nonsense mutation (Y67X) in a German family with Van der Woude syndrome. Int J Mol Med 2007;20:85-89.
11. Rutledge KD, Barger C, Grant JH, Robin NH. IRF6 mutations in mixed isolated familial clefting. Am J Med Genet A 2010;152A:3107-3109.
12. Birkeland AC, Larrabee Y, Kent DT, et al. Novel IRF6 mutations in Honduran Van der Woude syndrome patients. Mol Med Report 2011;4:237-241.
13. Minones-Suarez L, Mas-Vidal A, Fernandez-Toral J, Llano-Rivas I, Gonzalez-Garcia M. A novel mutation in the IRF6 gene associated with facial asymmetry in a family affected with Van der Woude Syndrome. Pediatr Dermatol 2011; epub ahead of print 13 October 2011.
14. Salahshourifar I, Halim AS, Sulaiman WA, Ariffin R, Naili Muhamad Nor N, Zilfalil BA. De novo interstitial deletion of 1q32.2-q32.3 including the entire IRF6 gene in a patient with oral cleft and other dysmorphic features. Cytogenet Genome Res 2011;134:83-87.
15. Desmyter L, Ghassibe M, Revencu N, et al. IRF6 screening of syndromic and a priori non-syndromic cleft lip and palate patients: identification of a new type of minor VWS sign. Mol Syndromol 2010;1:67-74.
16. Scioletti AP, Brancati F, Gatta V, et al. Two novel mutations affecting splicing in the IRF6 gene associated with van der Woude syndrome. J Craniofac Surg 2010;21:1654-1656.
17. Matsuzawa N, Kondo S, Shimozato K, et al. Two missense mutations of the IRF6 gene in two Japanese families with popliteal pterygium syndrome. Am J Med Genet A 2010;152A:2262-2267.
18. Yeetong P, Mahatumarat C, Siriwan P, Rojvachiranonda N, Suphapeetiporn K, Shotelersuk V. Three novel mutations of the IRF6 gene with one associated with an unusual feature in Van der Woude syndrome. Am J Med Genet A 2009;149A:2489-2492.
19. Jehee FS, Burin BA, Rocha KM, et al. Novel mutations in IRF6 in nonsyndromic cleft lip with or without cleft palate: when should IRF6 mutational screening be done? Am J Med Genet A 2009;149A:1319-1322.
20. Malik S, Kakar N, Hasnain S, Ahmad J, Wilcox ER, Naz S. Epidemiology of Van der Woude syndrome from mutational analyses in affected patients from Pakistan. Clin Genet 2010;78:247-256.
21. Burdick AB. Genetic epidemiology and control of genetic expression in van der Woude syndrome. J Craniofac Genet Dev Biol Suppl 1986;2:99-105.
22. Froster-Iskenius UG. Popliteal pterygium syndrome. J Med Genet 1990;27:320-326.
23. Adzhubei IA, Schmidt S, Peshkin L, et al. A method and server for predicting damaging missense mutations. Nat Methods 2010;7:248-249.
24. Ng PC, Henikoff S. SIFT: predicting amino acid changes that affect protein function. Nucleic Acids Res 2003;31:3812-3814.
25. Waterhouse AM, Procter JB, Martin DM, Clamp M, Barton GJ. Jalview Version 2-a multiple sequence alignment editor and analysis workbench. Bioinformatics 2009;25:1189-1191.
26. Kayano S, Kure S, Suzuki Y, et al. Novel IRF6 mutations in Japanese patients with Van der Woude syndrome: two missense mutations (R45Q and P396S) and a 17-kb deletion. J Hum Genet 2003;48:622-628.
27. Thusberg J, Olatubosun A, Vihinen M. Performance of mutation pathogenicity prediction methods on missense variants. Hum Mutat 2011;32:358-368.
28. Botti E, Spallone G, Moretti F, et al. Developmental factor IRF6 exhibits tumor suppressor activity in squamous cell carcinomas. Proc Natl Acad Sci USA 2011;108:13710-13715.
29. Little HJ, Rorick NK, Su LI, et al. Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNAbinding and transcriptional activation functions of IRF6. Hum Mol Genet 2009;18:535-545.
30. Richards CS, Bale S, Bellissimo DB, et al. ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. Genet Med 2008;10:294-300.
31. Flanagan SE, Patch AM, Ellard S. Using SIFT and PolyPhen to predict lossof-function and gain-of-function mutations. Genet Test Mol Biomarkers 2010;14:533-537.
32. MacArthur DG, Balasubramanian S, Frankish A, et al. A systematic survey of loss-of-function variants in human protein-coding genes. Science 2012;335:823-828.