作者
MA Eshete, H Liu, M Li, WL Adeyemo, LJJ Gowans, PA Mossey, T Busch, W Deressa, P Donkor, PB Olaitan, BS Aregbesola, RO Braimah, GO Oseni, F Oginni, R Audu, C Onwuamah, O James, E Augustine-Akpan, LA Rahman, MO Ogunlewe, FKN Arthur, SA Bello, P Agbenorku, P Twumasi, F Abate, T Hailu, Y Demissie, A Hailu, G Plange-Rhule, S Obiri-Yeboah, MM Dunnwald, PE Gravem, ML Marazita, AA Adeyemo, JC Murray, RA Cornell, A Butali
发表日期
2018/1
期刊
Journal of dental research
卷号
97
期号
1
页码范围
41-48
出版商
SAGE Publications
简介
In contrast to the progress that has been made toward understanding the genetic etiology of cleft lip with or without cleft palate, relatively little is known about the genetic etiology for cleft palate only (CPO). A common coding variant of grainyhead like transcription factor 3 (GRHL3) was recently shown to be associated with risk for CPO in Europeans. Mutations in this gene were also reported in families with Van der Woude syndrome. To identify rare mutations in GRHL3 that might explain the missing heritability for CPO, we sequenced GRHL3 in cases of CPO from Africa. We recruited participants from Ghana, Ethiopia, and Nigeria. This cohort included case-parent trios, cases and other family members, as well as controls. We sequenced exons of this gene in DNA from a total of 134 nonsyndromic cases. When possible, we sequenced them in parents to identify de novo mutations. Five novel mutations were identified …
引用总数
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