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Published on: March 24, 2017
IRF6 mutations in mixed isolated familial clefting.
Katherine D Rutledge1, Christina Barger, John H Grant
1Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
Mutations in the interferon regulatory factor 6 (IRF6) gene are linked to van der Woude syndrome. This study identifies IRF6 mutations in families with mixed oro-facial clefting, suggesting IRF6 testing is valuable for these cases.
Area of Science:
- Genetics
- Developmental Biology
- Medical Research
Background:
- Interferon regulatory factor 6 (IRF6) gene mutations cause van der Woude syndrome (VWS).
- VWS is characterized by mixed oro-facial clefting and lip pits, though lip pits are not always present.
- IRF6 mutations can mimic non-syndromic clefting phenotypes.
Observation:
- Previous studies suggested IRF6 mutations are absent in sporadic and familial non-syndromic clefting.
- This led to the conclusion that IRF6 testing is not warranted for non-syndromic clefting.
- Two families with familial mixed clefting were analyzed.
Findings:
- Mutations in the IRF6 gene were identified in the analyzed families.
- These findings challenge previous conclusions regarding IRF6's role in non-syndromic clefting.
- The study confirms IRF6 mutations can present as familial mixed clefting.
Implications:
- IRF6 gene testing should be considered for familial cases of mixed oro-facial clefting.
- This research expands the understanding of IRF6-related phenotypes.
- Genetic testing for IRF6 mutations may aid in diagnosing familial non-syndromic oro-facial clefting.
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