Damaging Mutations in AFDN Contribute to Risk of Nonsyndromic Cleft Lip With or Without Cleft Palate.
Waheed AwotoyePeter A MosseyJacqueline B HetmanskiLord Jephthah Joojo GowansMekonen A EsheteWasiu L AdeyemoAzeez AladeErliang ZengOlawale O AdamsonOlutayo JamesAzeez FashinaModupe O OgunleweThirona NaickerChinyere AdelekeTamara BuschMary LiAline PetrinAbimbola OladayoSami KayaliJoy OlotuVeronica SuleMohaned HassanJohn PapeEmmanuel T AladenikaPeter DonkorFareed K N ArthurSolomon Obiri-YeboahDaniel K SabbahPius AgbenorkuDebashree RayGyikua Plange-RhuleAlexander Acheampong OtiDaniah AlbokhariNara SobreiraMartine DunnwaldTerri H BeatyMargaret TaubMary L MarazitaAdebowale A AdeyemoJeffrey C MurrayAzeez ButaliPublished in: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association (2022)
This is the first report on the contribution of AFDN to the risk for nsCL ± P in humans. AFDN encodes AFADIN, an important CAM that forms calcium-independent complexes with nectins 1 and 4 (encoded by the genes PVRL1 and PVRL4 ). This discovery shows the power of NGS analysis of multiethnic cleft samples in combination with a computational approach in the understanding of the pathogenesis of nsCL ± P.
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