2017
DOI: 10.1002/mgg3.272
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Genetics and genomics etiology of nonsyndromic orofacial clefts

Abstract: Orofacial clefts (OFC) are complex birth defects. Studies using contemporary genomic techniques, bioinformatics, and statistical analyses have led to appreciable advances in identifying the causes of syndromic forms of clefts. This commentary gives an overview of the important cleft gene discoveries found using various genomic methods and tools.

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Cited by 15 publications
(12 citation statements)
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“…The nonsyndromic cases represent about 70% of all OFC cases (Beaty et al 2016;Adeyemo and Butali 2017). Genes such as PAX7, GRHL3, FGF, FGFR2, IRF6, BMP4, TGFA, TGFB1, and VAX1 are reported as causal genes for OFC (Beaty et al 2016;Li et al 2016;Adeyemo and Butali 2017). Of these genes, PAX7, BMP4, FGF2, and FGF5 are also related to muscle development.…”
Section: Genetic Factors In Orofacial Clefts and Muscle Developmentmentioning
confidence: 99%
“…The nonsyndromic cases represent about 70% of all OFC cases (Beaty et al 2016;Adeyemo and Butali 2017). Genes such as PAX7, GRHL3, FGF, FGFR2, IRF6, BMP4, TGFA, TGFB1, and VAX1 are reported as causal genes for OFC (Beaty et al 2016;Li et al 2016;Adeyemo and Butali 2017). Of these genes, PAX7, BMP4, FGF2, and FGF5 are also related to muscle development.…”
Section: Genetic Factors In Orofacial Clefts and Muscle Developmentmentioning
confidence: 99%
“…The Aims and Scope of MGGM were and are broad, to encompass a wide range of topics including basic and translational science, technological advances, human and medical genetics, animal models of human disease, pharmacogenomics and translational medicine (Muenke, ). From the first Editorial to the Invited Commentaries in each issue, various aspects of genomic medicine have been illustrated: integration of genomic information into the delivery of health care (De Castro & Turner, ; Eng, ; Francke, ; Slavotinek, ; Solomon, ; Williams, ), educational opportunities (Hart & Hart, ; Korf, ; McCarthy, ; Muenke, ), genomic counseling (Middleton, Hall, & Patch, ; Ormond, ); diverse populations (Adeyemo & Rotimi, ), ethical considerations (Wilfond & Goddard, ; one of the 10 most highly cited articles in MGGM , see below), comparative genomics (Mullikin, ), and many more including specific groups of diseases: newborn screening (Levy, ); substance use disorders (Rutter & Volkow, ); hearing loss (Pandya, ); orofacial clefting (Adeyemo & Butali, ), and stuttering (Frierio‐Domingues & Drayna, ). Some of my personal (M.M.)…”
Section: Genetics and Genomic Medicine Around The Worldmentioning
confidence: 99%
“…Two of the most well characterized epigenetic alterations are histone modification and DNA methylation [ 153 ]. Beyond the genome, the complete set of epigenetic modifications to the cellular DNA or histones (epigenome) are known to play an important role in the etiology of diseases [ 154 ]. The epigenome plays a pivotal role in the regulation of chromatin activity and therefore affect DNA repair and gene expression [ 152 ].…”
Section: Main Textmentioning
confidence: 99%