A Synonymous Exonic Splice Silencer Variant in IRF6 as a Novel and Cryptic Cause of Non-Syndromic Cleft Lip and Palate

A Synonymous Exonic Splice Silencer Variant in IRF6 as a Novel and Cryptic Cause of Non-Syndromic Cleft Lip and Palate

Missense, nonsense, splice site and regulatory region variants in interferon regulatory factor 6 (<i>IRF6</i>) have been shown to contribute to both syndromic and non-syndromic forms of cleft lip and/or palate (CL/P). We report the diagnostic evaluation of a complex multigeneration famil...

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Bibliographic Details
Main Authors: Beau Sylvester, Frederick Brindopke, Akiko Suzuki, Melissa Giron, Allyn Auslander, Richard L. Maas, Becky Tsai, Hanlin Gao, William Magee, Timothy C. Cox, Pedro A. Sanchez-Lara
Format: Article
Language:English
Published: MDPI AG 2020-08-01
Series:Genes
Subjects:
non-syndromic cleft lip with or without palate
<i>IRF6</i>
Van der Woude syndrome
synonymous
alternative splicing
splicing enhancer
Online Access:https://www.mdpi.com/2073-4425/11/8/903

Internet

https://www.mdpi.com/2073-4425/11/8/903

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