Non-random distribution of deleterious mutations in the DNA and protein-binding domains of IRF6 are associated with Van Der Woude syndrome.
Azeez Arisekola AladeCarmen J Buxo-MartinezPeter A MosseyLord Jephthah Joojo GowansMekonen A EsheteWasiu Lanre AdeyemoThirona NaickerWaheed A AwotoyeChinyere AdelekeTamara BuschAda M TorañoCarolina A BelloMairim SotoMarilyn SotoRicardo LedesmaMyrellis MarquezJose F CorderoLydia M Lopez-Del ValleMaria I SalcedoNatalio DebsMary LiAline PetrinJoy OlotuColleen AldousJames OlutayoModupe O OgunleweFekir AbateTaye HailuIbrahim MuhammedPaul GravemMilliard DeribewMulualem GessesMohaned HassanJohn PapeOluwole A AdeniyanSolomon Obiri-YeboahFareed K N ArthurAlexander A OtiOlubukola OlatosiSara E MillerPeter DonkorMartine M DunnwaldMary L MarazitaAdebowale A AdeyemoJeffrey C MurrayAzeez ButaliPublished in: Molecular genetics & genomic medicine (2020)
Mutations in the protein and DNA-binding domains of IRF6 ranked among the top 0.1% and 1% most deleterious genetic mutations, respectively. Overall, these findings expand the range of VWS mutations and are important for diagnostic and counseling purposes.