Genetic and epigenetic studies in non-syndromic oral clefts

被引:23
作者
Alade, Azeez [1 ,2 ,3 ]
Awotoye, Waheed [1 ,2 ]
Butali, Azeez [1 ,2 ]
机构
[1] Univ Iowa, Coll Dent, Dept Oral Pathol Radiol & Med, Iowa City, IA 52242 USA
[2] Univ Iowa, Iowa Inst Oral Hlth Res, Iowa City, IA USA
[3] Univ Iowa, Coll Publ Hlth, Dept Epidemiol, Iowa City, IA USA
关键词
epigenetics; genetics; Non-syndromic clefts; GENOME-WIDE ASSOCIATION; METHYLENETETRAHYDROFOLATE REDUCTASE GENE; GROWTH-FACTOR-ALPHA; OROFACIAL CLEFTS; CANDIDATE GENES; LINKAGE ANALYSIS; COMMON MUTATION; RARE VARIANTS; MSX1; MUTATION; RISK-FACTOR;
D O I
10.1111/odi.14146
中图分类号
R78 [口腔科学];
学科分类号
1003 ;
摘要
The etiology of non-syndromic oral clefts (NSOFC) is complex with genetics, genomics, epigenetics, and stochastics factors playing a role. Several approaches have been applied to understand the etiology of non-syndromic oral clefts. These include linkage, candidate gene association studies, genome-wide association studies, whole-genome sequencing, copy number variations, and epigenetics. In this review, we shared these approaches, genes, and loci reported in some studies.
引用
收藏
页码:1339 / 1350
页数:12
相关论文
共 116 条
  • [1] SUMO1 haploinsufficiency leads to cleft lip and palate
    Alkuraya, Fowzan S.
    Saadi, Irfan
    Lund, Jennifer J.
    Turbe-Doan, Annick
    Morton, Cynthia C.
    Maas, Richard L.
    [J]. SCIENCE, 2006, 313 (5794) : 1751 - 1751
  • [2] De novo Mutations (DNMs) in Autism Spectrum Disorder (ASD): Pathway and Network Analysis
    Alonso-Gonzalez, Aitana
    Rodriguez-Fontenla, Cristina
    Carracedo, Angel
    [J]. FRONTIERS IN GENETICS, 2018, 9
  • [3] Differential methylation is associated with non-syndromic cleft lip and palate and contributes to penetrance effects
    Alvizi, Lucas
    Ke, Xiayi
    Brito, Luciano Abreu
    Seselgyte, Rimante
    Moore, Gudrun E.
    Stanier, Philip
    Passos-Bueno, Maria Rita
    [J]. SCIENTIFIC REPORTS, 2017, 7
  • [4] Opinion - Mendelian disorders deserve more attention
    Antonarakis, SE
    Beckmann, JS
    [J]. NATURE REVIEWS GENETICS, 2006, 7 (04) : 277 - 282
  • [5] ARDINGER HH, 1989, AM J HUM GENET, V45, P348
  • [6] Using Whole Exome Sequencing to Identify Candidate Genes With Rare Variants In Nonsyndromic Cleft Lip and Palate
    Aylward, Alana
    Cai, Yi
    Lee, Andrew
    Blue, Elizabeth
    Rabinowitz, Daniel
    Haddad, Joseph, Jr.
    [J]. GENETIC EPIDEMIOLOGY, 2016, 40 (05) : 432 - 441
  • [7] Whole exome sequencing identifies mutations in 10% of patients with familial non-syndromic cleft lip and/or palate in genes mutated in well-known syndromes
    Basha, Mirta
    Demeer, Benedicte
    Revencu, Nicole
    Helaers, Raphael
    Theys, Stephanie
    Saba, Sami Bou
    Boute, Odile
    Devauchelle, Bernard
    Francois, Genevieve
    Bayet, Benedicte
    Vikkula, Miikka
    [J]. JOURNAL OF MEDICAL GENETICS, 2018, 55 (07) : 449 - 458
  • [8] A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4
    Beaty, Terri H.
    Murray, Jeffrey C.
    Marazita, Mary L.
    Munger, Ronald G.
    Ruczinski, Ingo
    Hetmanski, Jacqueline B.
    Liang, Kung Yee
    Wu, Tao
    Murray, Tanda
    Fallin, M. Daniele
    Redett, Richard A.
    Raymond, Gerald
    Schwender, Holger
    Jin, Sheng-Chih
    Cooper, Margaret E.
    Dunnwald, Martine
    Mansilla, Maria A.
    Leslie, Elizabeth
    Bullard, Stephen
    Lidral, Andrew C.
    Moreno, Lina M.
    Menezes, Renato
    Vieira, Alexandre R.
    Petrin, Aline
    Wilcox, Allen J.
    Lie, Rolv T.
    Jabs, Ethylin W.
    Wu-Chou, Yah Huei
    Chen, Philip K.
    Wang, Hong
    Ye, Xiaoqian
    Huang, Shangzhi
    Yeow, Vincent
    Chong, Samuel S.
    Jee, Sun Ha
    Shi, Bing
    Christensen, Kaare
    Melbye, Mads
    Doheny, Kimberly F.
    Pugh, Elizabeth W.
    Ling, Hua
    Castilla, Eduardo E.
    Czeizel, Andrew E.
    Ma, Lian
    Field, L. Leigh
    Brody, Lawrence
    Pangilinan, Faith
    Mills, James L.
    Molloy, Anne M.
    Kirke, Peadar N.
    [J]. NATURE GENETICS, 2010, 42 (06) : 525 - U76
  • [9] Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants
    Belkadi, Aziz
    Bolze, Alexandre
    Itan, Yuval
    Cobat, Aurelie
    Vincent, Quentin B.
    Antipenko, Alexander
    Shang, Lei
    Boisson, Bertrand
    Casanova, Jean-Laurent
    Abel, Laurent
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2015, 112 (17) : 5473 - 5478
  • [10] Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24
    Birnbaum, Stefanie
    Ludwig, Kerstin U.
    Reutter, Heiko
    Herms, Stefan
    Steffens, Michael
    Rubini, Michele
    Baluardo, Carlotta
    Ferrian, Melissa
    de Assis, Nilma Almeida
    Alblas, Margrieta A.
    Barth, Sandra
    Freudenberg, Jan
    Lauster, Carola
    Schmidt, Guel
    Scheer, Martin
    Braumann, Bert
    Berge, Stefaan J.
    Reich, Rudolf H.
    Schiefke, Franziska
    Hemprich, Alexander
    Poetzsch, Simone
    Steegers-Theunissen, Regine P.
    Poetzsch, Bernd
    Moebus, Susanne
    Horsthemke, Bernhard
    Kramer, Franz-Josef
    Wienker, Thomas F.
    Mossey, Peter A.
    Propping, Peter
    Cichon, Sven
    Hoffmann, Per
    Knapp, Michael
    Noethen, Markus M.
    Mangold, Elisabeth
    [J]. NATURE GENETICS, 2009, 41 (04) : 473 - 477