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非综合征性口腔颌面部裂隙的遗传学和基因组学病因

Genetics and genomics etiology of nonsyndromic orofacial clefts.

作者信息

Adeyemo Wasiu L, Butali Azeez

机构信息

Department of Oral and Maxillofacial Surgery College of Medicine University of Lagos Surulere Nigeria.

Department of Oral Pathology, Radiology and MedicineCollege of DentistryUniversity of IowaIowa CityIowa; Iowa Institute of Oral Health ResearchCollege of DentistryUniversity of IowaIowa CityIowa.

出版信息

Mol Genet Genomic Med. 2017 Jan 17;5(1):3-7. doi: 10.1002/mgg3.272. eCollection 2017 Jan.

DOI:10.1002/mgg3.272
PMID:28116324
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5241211/
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.

摘要

口面部裂隙（OFC）是复杂的出生缺陷。运用当代基因组技术、生物信息学和统计分析的研究，在确定综合征型腭裂病因方面取得了显著进展。本述评概述了使用各种基因组方法和工具发现的重要腭裂基因。

相似文献

[1]
Genetics and genomics etiology of nonsyndromic orofacial clefts.

Mol Genet Genomic Med. 2017-1-17

[2]
Genetic Factors in Nonsyndromic Orofacial Clefts.

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[3]
The prevalence, penetrance, and expressivity of etiologic variants in orofacial clefts patients from sub-Saharan Africa.

Mol Genet Genomic Med. 2017-1-12

[4]
Clinical Aspects associated with Syndromic forms of Orofacial Clefts in a Colombian population.

Colomb Med (Cali). 2015-12-30

[5]
Issues involved in the phenotypic classification of orofacial clefts ascertained through a state birth defects registry for the North Carolina Cleft Outcomes Study.

Birth Defects Res A Clin Mol Teratol. 2015-11

[6]
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Br J Oral Maxillofac Surg. 2015-10

[7]
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[8]
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[9]
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[10]
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引用本文的文献

[1]
Orofacial Clefts: Genetics of Cleft Lip and Palate.

Genes (Basel). 2023-8-9

[2]
SPECC1L: a cytoskeletal protein that regulates embryonic tissue dynamics.

Biochem Soc Trans. 2023-6-28

[3]
Precision Medicine in Oral Health and Diseases: A Systematic Review.

J Pers Med. 2023-4-25

[4]
Novel IRF6 variant in orofacial cleft patients from Durban, South Africa.

Mol Genet Genomic Med. 2023-5

[5]
Epidemiologic trends of infants with orofacial clefts in a multiethnic country: a retrospective population-based study.

Sci Rep. 2021-4-6

[6]
SPECC1L regulates palate development downstream of IRF6.

Hum Mol Genet. 2020-3-27

[7]
Orofacial Muscles: Embryonic Development and Regeneration after Injury.

J Dent Res. 2019-11-1

[8]
Integrated assessment of differentially expressed plasma microRNAs in subtypes of nonsyndromic orofacial clefts.

Medicine (Baltimore). 2018-6

[9]
Looking back and looking forward.

Mol Genet Genomic Med. 2018-1

[10]
Omics-based molecular techniques in oral pathology centred cancer: prospect and challenges in Africa.

Cancer Cell Int. 2017-6-5

本文引用的文献

[1]
Exome sequencing provides additional evidence for the involvement of ARHGAP29 in Mendelian orofacial clefting and extends the phenotypic spectrum to isolated cleft palate.

Birth Defects Res. 2017-1-20

[2]
Association Studies and Direct DNA Sequencing Implicate Genetic Susceptibility Loci in the Etiology of Nonsyndromic Orofacial Clefts in Sub-Saharan African Populations.

J Dent Res. 2016-10

[3]
Variants of the CDH1 (E-Cadherin) Gene Associated with Oral Clefts in the Thai Population.

Genet Test Mol Biomarkers. 2016-7

[4]
Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate.

Am J Hum Genet. 2016-4-7

[5]
A Genome-wide Association Study of Nonsyndromic Cleft Palate Identifies an Etiologic Missense Variant in GRHL3.

Am J Hum Genet. 2016-4-7

[6]
Rare Variants in the Epithelial Cadherin Gene Underlying the Genetic Etiology of Nonsyndromic Cleft Lip with or without Cleft Palate.

Hum Mutat. 2015-11

[7]
DNA methylation as a dynamic regulator of development and disease processes: spotlight on the prostate.

Epigenomics. 2015

[8]
Early-life influences on obesity: from preconception to adolescence.

Ann N Y Acad Sci. 2015-7

[9]
A genome-wide study of inherited deletions identified two regions associated with nonsyndromic isolated oral clefts.

Birth Defects Res A Clin Mol Teratol. 2015-4

[10]
Genome-wide association study identifies a new susceptibility locus for cleft lip with or without a cleft palate.

Nat Commun. 2015-3-16

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