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
  • [61] Folate and clefts of the lip and palate - A UK-based case-control study: Part II: Biochemical and genetic analysis
    Little, J.
    Gilmour, M.
    Mossey, P. A.
    FitzPatrick, D.
    Cardy, A.
    Clayton-Smith, J.
    Hill, A.
    Duthie, S. J.
    Fryer, A. E.
    Molloy, A. M.
    Scott, J. M.
    [J]. CLEFT PALATE CRANIOFACIAL JOURNAL, 2008, 45 (04) : 428 - 438
  • [62] Exome Sequencing Provides Additional Evidence for the Involvement of ARHGAP29 in Mendelian Orofacial Clefting and Extends the Phenotypic Spectrum to Isolated Cleft Palate
    Liu, Huan
    Busch, Tamara
    Eliason, Steven
    Anand, Deepti
    Bullard, Steven
    Gowans, Lord J. J.
    Nidey, Nichole
    Petrin, Aline
    Augustine-Akpan, Eno-Abasi
    Saadi, Irfan
    Dunnwald, Martine
    Lachke, Salil A.
    Zhu, Ying
    Adeyemo, Adebowale
    Amendt, Brad
    Roscioli, Tony
    Cornell, Robert
    Murray, Jeffrey
    Butali, Azeez
    [J]. BIRTH DEFECTS RESEARCH, 2017, 109 (01): : 27 - 37
  • [63] Irf6 directly regulates Klf17 in zebrafish periderm and Klf4 in murine oral epithelium, and dominant-negative KLF4 variants are present in patients with cleft lip and palate
    Liu, Huan
    Leslie, Elizabeth J.
    Jia, Zhonglin
    Smith, Tiffany
    Eshete, Mekonen
    Butali, Azeez
    Dunnwald, Martine
    Murray, Jeffrey
    Cornell, Robert A.
    [J]. HUMAN MOLECULAR GENETICS, 2016, 25 (04) : 766 - 776
  • [64] Distinct functions for Bmp signaling in lip and palate fusion in mice
    Liu, W
    Sun, XX
    Braut, A
    Mishina, Y
    Behringer, RR
    Mina, M
    Martin, JF
    [J]. DEVELOPMENT, 2005, 132 (06): : 1453 - 1461
  • [65] Strong Association of Variants around FOXE1 and Orofacial Clefting
    Ludwig, K. U.
    Boehmer, A. C.
    Rubini, M.
    Mossey, P. A.
    Herms, S.
    Nowak, S.
    Reutter, H.
    Alblas, M. A.
    Lippke, B.
    Barth, S.
    Paredes-Zenteno, M.
    Munoz-Jimenez, S. G.
    Ortiz-Lopez, R.
    Kreusch, T.
    Hemprich, A.
    Martini, M.
    Braumann, B.
    Jaeger, A.
    Poetzsch, B.
    Molloy, A.
    Peterlin, B.
    Hoffmann, P.
    Noethen, M. M.
    Rojas-Martinez, A.
    Knapp, M.
    Steegers-Theunissen, R. P.
    Mangold, E.
    [J]. JOURNAL OF DENTAL RESEARCH, 2014, 93 (04) : 376 - 381
  • [66] Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci
    Ludwig, Kerstin U.
    Mangold, Elisabeth
    Herms, Stefan
    Nowak, Stefanie
    Reutter, Heiko
    Paul, Anna
    Becker, Jessica
    Herberz, Ruth
    AlChawa, Taofik
    Nasser, Entessar
    Boehmer, Anne C.
    Mattheisen, Manuel
    Alblas, Margrieta A.
    Barth, Sandra
    Kluck, Nadine
    Lauster, Carola
    Braumann, Bert
    Reich, Rudolf H.
    Hemprich, Alexander
    Poetzsch, Simone
    Blaumeiser, Bettina
    Daratsianos, Nikolaos
    Kreusch, Thomas
    Murray, Jeffrey C.
    Marazita, Mary L.
    Ruczinski, Ingo
    Scott, Alan F.
    Beaty, Terri H.
    Kramer, Franz-Josef
    Wienker, Thomas F.
    Steegers-Theunissen, Regine P.
    Rubini, Michele
    Mossey, Peter A.
    Hoffmann, Per
    Lange, Christoph
    Cichon, Sven
    Propping, Peter
    Knapp, Michael
    Noethen, Markus M.
    [J]. NATURE GENETICS, 2012, 44 (09) : 968 - 971
  • [67] A systematic review of associated structural and chromosomal defects in oral clefts: when is prenatal genetic analysis indicated?
    Maarse, Wies
    Rozendaal, Anna Maria
    Pajkrt, Eva
    Vermeij-Keers, Christl
    Van der Molen, Aebele Barber Mink
    van den Boogaard, Marie-Jose Henriette
    [J]. JOURNAL OF MEDICAL GENETICS, 2012, 49 (08) : 490 - 498
  • [68] Identification of Novel Variants in Cleft Palate-Associated Genes in Brazilian Patients With Non-syndromic Cleft Palate Only
    Machado, Renato Assis
    Martelli-Junior, Hercilio
    Reis, Silvia Regina de Almeida
    Kuchler, Erika Calvano
    Scariot, Rafaela
    das Neves, Lucimara Teixeira
    Coletta, Ricardo D.
    [J]. FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY, 2021, 9
  • [69] What can exome sequencing do for you?
    Majewski, Jacek
    Schwartzentruber, Jeremy
    Lalonde, Emilie
    Montpetit, Alexandre
    Jabado, Nada
    [J]. JOURNAL OF MEDICAL GENETICS, 2011, 48 (09) : 580 - 589
  • [70] Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate
    Mangold, Elisabeth
    Boehmer, Anne C.
    Ishorst, Nina
    Hoebel, Ann-Kathrin
    Gueltepe, Pinar
    Schuenke, Hannah
    Klamt, Johanna
    Hofmann, Andrea
    Goelz, Lina
    Raff, Ruth
    Tessmann, Peter
    Nowak, Stefanie
    Reutter, Heiko
    Hemprich, Alexander
    Kreusch, Thomas
    Kramer, Franz-Josef
    Braumann, Bert
    Reich, Rudolf
    Schmidt, Guel
    Jaeger, Andreas
    Reiter, Rudolf
    Brosch, Sibylle
    Stavusis, Janis
    Ishida, Miho
    Seselgyte, Rimante
    Moore, Gudrun E.
    Noethen, Markus M.
    Borck, Guntram
    Aldhorae, Khalid A.
    Lace, Baiba
    Stanier, Philip
    Knapp, Michael
    Ludwig, Kerstin U.
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2016, 98 (04) : 755 - 762