Screening of IRF6 Variants in Patients Subjected to Genetic Association Studies for Nonsyndromic Cleft Lip/Palate.

José Antonio Velázquez-AragónAriadna González-Del AngelMiguel A Alcántara-OrtigozaMiriam E Reyna-FabiánBernardette Estandia-Ortega

Published in: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association (2020)

The misdiagnosis of IRF6-related VWS as NSCL/P appears to be infrequent in our sample, suggesting that mutational screening of IRF6 would have a low diagnostic yield in patients with NSCL/P. The absence of IRF6 pathogenic alleles could be related to the application of an exhaustive clinical evaluation that discarded the syndromic forms and/or the low proportion of familial cases included.

Keyphrases

dendritic cells
clinical evaluation
end stage renal disease
newly diagnosed
ejection fraction
copy number
prognostic factors
early onset
immune response
patient reported outcomes
patient reported