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颌骨畸形的遗传基础综述。

Review of the Genetic Basis of Jaw Malformations.

作者信息

Ahmed Mairaj K, Ye Xiaoqian, Taub Peter J

机构信息

Department of Dentistry/Oral & Maxillofacial Surgery, Icahn School of Medicine at Mount Sinai, New York, New York, United States; Department of Otolaryngology, Icahn School of Medicine at Mount Sinai, New York, New York, United States.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, United States.

出版信息

J Pediatr Genet. 2016 Dec;5(4):209-219. doi: 10.1055/s-0036-1593505. Epub 2016 Oct 12.

DOI:10.1055/s-0036-1593505
PMID:27895973
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5123890/
Abstract

Genetic etiologies for congenital anomalies of the facial skeleton, namely, the maxilla and mandible, are important to understand and recognize. Malocclusions occur when there exist any significant deviation from what is considered a normal relationship between the upper jaw (maxilla) and the lower jaw (mandible). They may be the result of anomalies of the teeth alone, the bones alone, or both. A number of genes play a role in the facial skeletal development and are regulated by a host of additional regulatory molecules. As such, numerous craniofacial syndromes specifically affect the development of the jaws. The following review discusses several genetic anomalies that specifically affect the bones of the craniofacial skeleton and lead to malocclusion.

摘要

了解和认识导致面部骨骼(即上颌骨和下颌骨)先天性畸形的遗传病因很重要。当上颌骨(上颌)和下颌骨(下颌)之间的关系显著偏离正常关系时,就会出现错牙合畸形。它们可能是仅牙齿异常、仅骨骼异常或两者皆有的结果。许多基因在面部骨骼发育中起作用,并受到许多其他调节分子的调控。因此,众多颅面综合征会特别影响颌骨的发育。以下综述讨论了几种特别影响颅面骨骼并导致错牙合畸形的遗传异常。

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本文引用的文献

1
Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia.A型内皮素受体突变导致伴有脱发的下颌面骨发育不全。
Am J Hum Genet. 2015 Apr 2;96(4):519-31. doi: 10.1016/j.ajhg.2015.01.015. Epub 2015 Mar 12.
2
Microsatellite genome-wide association study for mandibular prognathism.下颌前突的微卫星全基因组关联研究。
Am J Orthod Dentofacial Orthop. 2014 Jun;145(6):757-62. doi: 10.1016/j.ajodo.2014.01.022.
3
Relationship between P561T and C422F polymorphisms in growth hormone receptor gene and mandibular prognathism.生长激素受体基因中P561T和C422F多态性与下颌前突之间的关系。
Angle Orthod. 2014 Sep;84(5):803-9. doi: 10.2319/091713-680.1. Epub 2014 Mar 21.
4
Analysis of the association of COL2A1 and IGF-1 with mandibular prognathism in a Chinese population.中国人群中COL2A1和IGF-1与下颌前突相关性分析
Orthod Craniofac Res. 2014 Aug;17(3):144-9. doi: 10.1111/ocr.12038. Epub 2014 Jan 5.
5
Epigenetic influence of KAT6B and HDAC4 in the development of skeletal malocclusion.KAT6B 和 HDAC4 在骨骼错颌畸形发育中的表观遗传影响。
Am J Orthod Dentofacial Orthop. 2013 Oct;144(4):568-76. doi: 10.1016/j.ajodo.2013.06.016.
6
A missense mutation in DUSP6 is associated with Class III malocclusion.DUSP6 中的错义突变与 III 类错颌畸形有关。
J Dent Res. 2013 Oct;92(10):893-8. doi: 10.1177/0022034513502790. Epub 2013 Aug 21.
7
Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations.眼面-颌综合征伴食管闭锁、智力障碍和颧骨异常——扩展与 EFTUD2 突变相关的表型。
Orphanet J Rare Dis. 2013 Jul 24;8:110. doi: 10.1186/1750-1172-8-110.
8
Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome.12 例临床诊断为 Nager 综合征患者的临床和突变数据。
Hum Genet. 2013 Aug;132(8):885-98. doi: 10.1007/s00439-013-1295-2. Epub 2013 Apr 9.
9
Human facial dysostoses.人类面骨发育不全
Clin Genet. 2013 Jun;83(6):499-510. doi: 10.1111/cge.12123. Epub 2013 Apr 8.
10
"Mandibulofacial dysostosis with microcephaly" caused by EFTUD2 mutations: expanding the phenotype.EFTUD2 突变导致的下颌面骨发育不全伴小头畸形:表型扩展。
Am J Med Genet A. 2013 Jan;161A(1):108-13. doi: 10.1002/ajmg.a.35696. Epub 2012 Dec 14.