Article
Whole-genome sequencing reveals de-novo mutations associated with nonsyndromic cleft lip/palate.
Scientific reports - 11 Jul 2022
Awotoye Waheed, Mossey Peter A, Hetmanski Jacqueline B, Gowans Lord J J, Eshete Mekonen A, Adeyemo Wasiu L, Alade Azeez, Zeng Erliang, Adamson Olawale, Naicker Thirona, Anand Deepti, Adeleke Chinyere, Busch Tamara, Li Mary, Petrin Aline, Aregbesola Babatunde S, Braimah Ramat O, Oginni Fadekemi O, Oladele Ayodeji O, Oladayo Abimbola, Kayali Sami, Olotu Joy, Hassan Mohaned, Pape John, Donkor Peter, Arthur Fareed K N, Obiri-Yeboah Solomon, Sabbah Daniel K, Agbenorku Pius, Plange-Rhule Gyikua, Oti Alexander Acheampong, Gogal Rose A, Beaty Terri H, Taub Margaret, Marazita Mary L, Schnieders Michael J, Lachke Salil A, Adeyemo Adebowale A, Murray Jeffrey C, Butali Azeez
Abstract excerpt
The majority (85%) of nonsyndromic cleft lip with or without cleft palate (nsCL/P) cases occur sporadically, suggesting a role for de novo mutations (DNMs) in the etiology of nsCL/P. To identify high impact protein-altering DNMs that contribute to the risk of nsCL/P, we conducted whole-genome sequencing (WGS) analyses in 130 African case-parent trios (affected probands and unaffected parents). We identified 162...
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