Damaging Mutations in AFDN Contribute to Risk of Nonsyndromic Cleft Lip With or Without Cleft Palate

Waheed Awotoye, Peter A Mossey, Jacqueline B Hetmanski, Lord J J Gowans, Mekonen A Eshete, Wasiu L Adeyemo, Azeez Alade, Erliang Zeng, Olawale Adamson, Olutayo James, Azeez Fashina, Modupe O Ogunlewe, Thirona Naicker, Chinyere Adeleke, Tamara Busch, Mary Li, Aline Petrin, Abimbola Oladayo, Sami Kayali, Joy Olotu, Veronica Sule, Mohaned Hassan, John Pape, Emmanuel T Aladenika, Peter Donkor … & Azeez Butali
ObjectivesNovel or rare damaging mutations have been implicated in the developmental pathogenesis of nonsyndromic cleft lip with or without cleft palate (nsCL ± P). Thus, we investigated the human genome for high-impact mutations that could explain the risk of nsCL ± P in our cohorts.Materials and Methods:We conducted next-generation sequencing (NGS) analysis of 130 nsCL ± P case-parent African trios to identify pathogenic variants that contribute to the risk of clefting. We replicated this analysis...
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