Genetics of cleft lip and cleft palate.
TLDR
Orofacial clefts are common birth defects and can occur as isolated, nonsyndromic events or as part of Mendelian syndromes, and identification of these genes and loci has been the result of decades of research using multiple genetic approaches.Abstract:
Orofacial clefts are common birth defects and can occur as isolated, nonsyndromic events or as part of Mendelian syndromes. There is substantial phenotypic diversity in individuals with these birth defects and their family members: from subclinical phenotypes to associated syndromic features that is mirrored by the many genes that contribute to the etiology of these disorders. Identification of these genes and loci has been the result of decades of research using multiple genetic approaches. Significant progress has been made recently due to advances in sequencing and genotyping technologies, primarily through the use of whole exome sequencing and genome-wide association studies. Future progress will hinge on identifying functional variants, investigation of pathway and other interactions, and inclusion of phenotypic and ethnic diversity in studies.read more
Citations
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CBCT in orthodontics: assessment of treatment outcomes and indications for its use
Sunil Kapila,Jeanne M. Nervina +1 more
TL;DR: A comprehensive and current review of key studies on the applications of CBCT in orthodontic therapy and for research to decipher treatment outcomes and 3D cranio-facial anatomy is provided in this paper.
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Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity.
Yanqin Yu,Xianbo Zuo,Miao He,Jinping Gao,Yuchuan Fu,Chuanqi Qin,Liuyan Meng,Wenjun Wang,Yaling Song,Yong Cheng,Fusheng Zhou,Gang Chen,Xiaodong Zheng,Xinhuan Wang,Bo Liang,Zhengwei Zhu,Xiazhou Fu,Yujun Sheng,Jiebing Hao,Zhongyin Liu,Hansong Yan,Elisabeth Mangold,Ingo Ruczinski,Jianjun Liu,Mary L. Marazita,Kerstin U. Ludwig,Terri H. Beaty,Xuejun Zhang,Liangdan Sun,Zhuan Bian +29 more
TL;DR: This study substantially increases the number of genetic susceptibility loci for NSCLP and provides important insights into the genetic aetiology of this common craniofacial malformation.
CBCT SPECIAL ISSUE: REVIEW ARTICLE CBCT in orthodontics: assessment of treatment outcomes and indications for its use
S D Kapila,J M Nervina +1 more
TL;DR: A comprehensive and current review of key studies on the applications of CBCT in orthodontic therapy and for research to decipher treatment outcomes and 3D craniofacial anatomy is provided.
Journal ArticleDOI
A multi-ethnic genome-wide association study identifies novel loci for non-syndromic cleft lip with or without cleft palate on 2p24.2, 17q23 and 19q13
Elizabeth J. Leslie,Jenna C. Carlson,John R. Shaffer,Eleanor Feingold,George L. Wehby,Cecelia A. Laurie,Deepti Jain,Cathy C. Laurie,Kimberly F. Doheny,Toby Goldstein McHenry,Judith M. Resick,Carla A. Sanchez,Jennifer Jacobs,Beth Emanuele,Alexandre R. Vieira,Katherine Neiswanger,Andrew C. Lidral,Luz Consuelo Valencia-Ramirez,Ana Maria Lopez-Palacio,Dora Rivera Valencia,Mauricio Arcos-Burgos,Andrew E. Czeizel,L. Leigh Field,Carmencita Padilla,Eva Maria Cutiongco-de la Paz,Frederic W.-B. Deleyiannis,Kaare Christensen,Ronald G. Munger,Rolv T. Lie,Allen J. Wilcox,Paul A. Romitti,Eduardo E. Castilla,Juan C. Mereb,Fernando A. Poletta,Iêda M. Orioli,Flávia Martinez de Carvalho,Jacqueline T. Hecht,Susan H. Blanton,Carmen J. Buxó,Azeez Butali,Peter A. Mossey,Wasiu Lanre Adeyemo,Olutayo James,Ramat Oyebunmi Braimah,Babatunde S. Aregbesola,Mekonen Eshete,Fikre Abate,Mine Koruyucu,Figen Seymen,Lian Ma,Javier Enríquez de Salamanca,Seth M. Weinberg,Lina M. Moreno,Jeffrey C. Murray,Mary L. Marazita +54 more
TL;DR: A multiethnic genome-wide association study with European, Asian, African and Central and South American ancestry revealed novel CL/P risk loci and suggest new genes involved in craniofacial development, confirming the highly heterogeneous etiology of OFCs.
Journal ArticleDOI
Genetic factors influencing risk to orofacial clefts: today's challenges and tomorrow's opportunities.
TL;DR: Genomic sequencing studies are now underway which will no doubt reveal additional genes/regions where variants (sequence and structural) can play a role in controlling risk to orofacial clefts.
References
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Journal ArticleDOI
Exome sequencing identifies the cause of a Mendelian disorder
Sarah B H Ng,Kati J. Buckingham,Choli Lee,Abigail W. Bigham,Holly K. Tabor,Holly K. Tabor,Karin M. Dent,Chad D. Huff,Paul Shannon,Ethylin Wang Jabs,Ethylin Wang Jabs,Deborah A. Nickerson,Jay Shendure,Michael J. Bamshad,Michael J. Bamshad +14 more
TL;DR: Exome sequencing of a small number of unrelated affected individuals is a powerful, efficient strategy for identifying the genes underlying rare mendelian disorders and will likely transform the genetic analysis of monogenic traits.
Journal ArticleDOI
Mutations of the Human Homolog of Drosophila patched in the Nevoid Basal Cell Carcinoma Syndrome
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Journal ArticleDOI
Human Homolog of patched, a Candidate Gene for the Basal Cell Nevus Syndrome
Ronald L. Johnson,Alana L. Rothman,Jingwu Xie,Lisa V. Goodrich,John W. Bare,Jeannette M. Bonifas,Anthony G. Quinn,Richard M. Myers,David R. Cox,Ervin H. Epstein,Matthew P. Scott +10 more
TL;DR: Heritable mutations in BCNS patients and a somatic mutation in a sporadic BCC were identified in a human homolog of the Drosophila patched (ptc) gene, which appears to be crucial for proper embryonic development and for tumor suppression.
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