Abstract | PURPOSE: METHODS: RESULTS: We identified mutations in interferon regulatory factor 6 exons in 68% of families in both Van der Woude collections and in 97% of families with popliteal pterygium syndrome. In sum, 106 novel disease-causing variants were found. The distribution of mutations in the interferon regulatory factor 6 exons in each collection was not random; exons 3, 4, 7, and 9 accounted for 80%. In the Van der Woude collections, the mutations were evenly divided between protein truncation and missense, whereas most mutations identified in the popliteal pterygium syndrome collection were missense. Further, the missense mutations associated with popliteal pterygium syndrome were localized significantly to exon 4, at residues that are predicted to bind directly to DNA. CONCLUSION:
|
Authors | Renata L L Ferreira de Lima, Sarah A Hoper, Michella Ghassibe, Margaret E Cooper, Nicholas K Rorick, Shinji Kondo, Lori Katz, Mary L Marazita, John Compton, Sherri Bale, Ute Hehr, Michael J Dixon, Sandra Daack-Hirsch, Odile Boute, Bénédicte Bayet, Nicole Revencu, Christine Verellen-Dumoulin, Miikka Vikkula, Antônio Richieri-Costa, Danilo Moretti-Ferreira, Jeffrey C Murray, Brian C Schutte |
Journal | Genetics in medicine : official journal of the American College of Medical Genetics
(Genet Med)
Vol. 11
Issue 4
Pg. 241-7
(Apr 2009)
ISSN: 1530-0366 [Electronic] United States |
PMID | 19282774
(Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)
|
Chemical References |
- IRF6 protein, human
- Interferon Regulatory Factors
|
Topics |
- Abnormalities, Multiple
(genetics, pathology)
- Amino Acid Sequence
- Binding Sites
(genetics)
- Cleft Lip
(pathology)
- Cleft Palate
(pathology)
- DNA Mutational Analysis
- Exons
- Family Health
- Female
- Gene Frequency
- Humans
- Interferon Regulatory Factors
(genetics)
- Lower Extremity Deformities, Congenital
(pathology)
- Male
- Molecular Sequence Data
- Mutation
- Syndrome
|