Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes

Author:

Kondo Shinji,Schutte Brian C.,Richardson Rebecca J.,Bjork Bryan C.,Knight Alexandra S.,Watanabe Yoriko,Howard Emma,Ferreira de Lima Renata L.L.,Daack-Hirsch Sandra,Sander Achim,McDonald-McGinn Donna M.,Zackai Elaine H.,Lammer Edward J.,Aylsworth Arthur S.,Ardinger Holly H.,Lidral Andrew C.,Pober Barbara R.,Moreno Lina,Arcos-Burgos Mauricio,Valencia Consuelo,Houdayer Claude,Bahuau Michel,Moretti-Ferreira Danilo,Richieri-Costa Antonio,Dixon Michael J.,Murray Jeffrey C.

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Reference29 articles.

1. Taniguchi, T., Ogasawara, K., Takaoka, A. & Tanaka, N. IRF family of transcription factors as regulators of host defense. Annu. Rev. Immunol. 19, 623–655 (2001).

2. Murray, J.C. et al. Linkage of an autosomal dominant clefting syndrome (Van der Woude) to loci on chromosome 1q. Am. J. Hum. Genet. 46, 486–491 (1990).

3. Schutte, B.C. et al. 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).

4. Van der Woude, A. Fistula labii inferioris congenita and its association with cleft lip and palate. Am. J. Hum. Genet. 6, 244–256 (1954).

5. Gorlin, R.J., Sedano, H.O. & Cervenka, J. Popliteal pterygium syndrome. A syndrome comprising cleft lip-palate, popliteal and intercrural pterygia, digital and genital anomalies. Pediatrics 41, 503–509 (1968).

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