唇腭裂：了解遗传和环境的影响。
Cleft lip and palate: understanding genetic and environmental influences.
机构信息
Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, Michael Smith Building, University of Manchester, Oxford Road, Manchester M13 9PT, UK.
出版信息
Nat Rev Genet. 2011 Mar;12(3):167-78. doi: 10.1038/nrg2933.
Abstract
Clefts of the lip and/or palate (CLP) are common birth defects of complex aetiology. CLP can occur in isolation or as part of a broad range of chromosomal, Mendelian or teratogenic syndromes. Although there has been marked progress in identifying genetic and environmental triggers for syndromic CLP, the aetiology of the more common non-syndromic (isolated) forms remains poorly characterized. Recently, using a combination of epidemiology, careful phenotyping, genome-wide association studies and analysis of animal models, several distinct genetic and environmental risk factors have been identified and confirmed for non-syndromic CLP. These findings have advanced our understanding of developmental biology and created new opportunities for clinical translational research.
摘要
唇腭裂（CLP）是一种常见的先天性复杂畸形。CLP 可孤立发生，也可作为多种染色体、孟德尔或致畸综合征的一部分出现。尽管在确定综合征性 CLP 的遗传和环境触发因素方面已经取得了显著进展，但更常见的非综合征性（孤立）形式的病因仍未得到很好的描述。最近，通过结合流行病学、仔细的表型分析、全基因组关联研究和动物模型分析，已经确定并证实了几个不同的非综合征性 CLP 的遗传和环境风险因素。这些发现增进了我们对发育生物学的理解，并为临床转化研究创造了新的机会。
相似文献
1
Cleft lip and palate: understanding genetic and environmental influences.唇腭裂：了解遗传和环境的影响。
Nat Rev Genet. 2011 Mar;12(3):167-78. doi: 10.1038/nrg2933.
2
Cleft lip and palate in Tehran.德黑兰的唇腭裂情况。
Cleft Palate Craniofac J. 1992 Jan;29(1):15-6. doi: 10.1597/1545-1569_1992_029_0015_clapit_2.3.co_2.
3
Genetics of cleft lip and palate: syndromic genes contribute to the incidence of non-syndromic clefts.唇腭裂的遗传学：综合征性基因导致非综合征性唇腭裂的发生。
Hum Mol Genet. 2004 Apr 1;13 Spec No 1:R73-81. doi: 10.1093/hmg/ddh052. Epub 2004 Jan 13.
4
Orofacial clefts in Czechoslovakia. Incidence, genetics and prevention of cleft lip and palate over a 19-year period.捷克斯洛伐克的口面部裂隙。19年间唇腭裂的发病率、遗传学及预防。
Scand J Plast Reconstr Surg Hand Surg. 1987;21(1):19-25. doi: 10.3109/02844318709083574.
5
Genetics of cleft lip and/or cleft palate: association with other common anomalies.唇腭裂的遗传学：与其他常见异常的关联
Eur J Med Genet. 2014 Aug;57(8):381-93. doi: 10.1016/j.ejmg.2014.04.003. Epub 2014 Apr 21.
6
7
Gene/environment causes of cleft lip and/or palate.唇腭裂的基因/环境成因。
Clin Genet. 2002 Apr;61(4):248-56. doi: 10.1034/j.1399-0004.2002.610402.x.
8
Incidence and aetiology of oral clefts: a review.口腔裂隙的发病率及病因：综述
Afr J Med Med Sci. 2005 Mar;34(1):1-7.
9
Prevalence and evaluation of environmental risk factors associated with cleft lip and palate in a central Indian population.印度中部人群中与唇腭裂相关的环境危险因素的患病率及评估
Pediatr Dent. 2013 May-Jun;35(3):279-83.
10
Mouse genetic models of cleft lip with or without cleft palate.伴有或不伴有腭裂的唇裂小鼠遗传模型。
Birth Defects Res A Clin Mol Teratol. 2008 Feb;82(2):63-77. doi: 10.1002/bdra.20430.
引用本文的文献
1
Functional Validation of Noncoding Variants Associated With Nonsyndromic Orofacial Cleft.与非综合征性口腔颌面部裂隙相关的非编码变异的功能验证
Hum Mutat. 2025 Aug 28;2025:6824122. doi: 10.1155/humu/6824122. eCollection 2025.
2
Familial predisposition to flap necrosis after palatoplasty: a case report of two siblings with bilateral cleft palate.腭裂修复术后皮瓣坏死的家族易感性：两例双侧腭裂同胞病例报告
Arch Craniofac Surg. 2025 Aug;26(4):169-173. doi: 10.7181/acfs.2025.0027. Epub 2025 Aug 20.
3
CBCT study of adenoid and nasopharyngeal airway in boys with unilateral complete cleft lip and palate.单侧完全性唇腭裂男孩腺样体及鼻咽气道的锥形束CT研究
Oral Radiol. 2025 Aug 30. doi: 10.1007/s11282-025-00851-0.
4
Association of with Non-Syndromic Cleft Lip with or without Cleft Palate in a Japanese Population.与日本人群非综合征性唇裂伴或不伴腭裂的关联。
Genes (Basel). 2025 Jul 24;16(8):862. doi: 10.3390/genes16080862.
5
Gene-Sex Interaction in Non-Syndromic Orofacial Cleft Subtypes: A Case-Control Study Among the Vietnamese Population.非综合征性口腔颌面裂隙亚型中的基因-性别相互作用：越南人群中的病例对照研究。
Genes (Basel). 2025 Jul 22;16(8):853. doi: 10.3390/genes16080853.
6
Etiology of Cleft Lip and/or Cleft Palate in Southeastern Poland Based on Current Observational Study.基于当前观察性研究的波兰东南部唇裂和/或腭裂病因学
J Clin Med. 2025 Aug 11;14(16):5682. doi: 10.3390/jcm14165682.
7
The impact of maternal systemic diseases on the occurrence of cleft lip and palate in newborns: a narrative review.母亲全身性疾病对新生儿唇腭裂发生的影响：一项叙述性综述
Front Public Health. 2025 Aug 1;13:1568140. doi: 10.3389/fpubh.2025.1568140. eCollection 2025.
8
OXSeg: Multidimensional Attention UNet-Based Lip Segmentation Using Semi-Supervised Lip Contours.OXSeg：基于半监督唇部轮廓的多维注意力U-Net唇部分割
IEEE Access. 2025;13:104075-104088. doi: 10.1109/access.2025.3577000. Epub 2025 Jun 5.
9
Lactate inhibits mouse embryonic palatal mesenchyme cells chondrogenesis through AKT-PKM2 axis.乳酸通过AKT-PKM2轴抑制小鼠胚胎腭间充质细胞软骨形成。
BMC Oral Health. 2025 Jul 31;25(1):1289. doi: 10.1186/s12903-025-06632-9.
10
Genetic modulation of lncPSMB1 confers non-syndromic cleft lip with or without cleft palate susceptibility by promoting cell apoptosis.lncPSMB1的基因调控通过促进细胞凋亡赋予非综合征性唇裂伴或不伴腭裂易感性。
Commun Biol. 2025 Jul 29;8(1):1123. doi: 10.1038/s42003-025-08563-1.
本文引用的文献
1
Ethnic heterogeneity of IRF6 AP-2a binding site promoter SNP association with nonsyndromic cleft lip and palate.IRF6 AP-2a结合位点启动子单核苷酸多态性与非综合征性唇腭裂关联的种族异质性。
Cleft Palate Craniofac J. 2010 Nov;47(6):574-7. doi: 10.1597/09-153.
2
Revisiting the recurrence risk of nonsyndromic cleft lip with or without cleft palate.重新探讨非综合征型唇裂伴或不伴腭裂的复发风险。
Am J Med Genet A. 2010 Nov;152A(11):2697-702. doi: 10.1002/ajmg.a.33695.
3
Wound complications after cleft repair in children with Van der Woude syndrome.范德伍德综合征患儿唇腭裂修复术后的伤口并发症
J Craniofac Surg. 2010 Sep;21(5):1350-3. doi: 10.1097/SCS.0b013e3181ec6aad.
4
Reproductive patterns among Danish women with oral clefts.丹麦唇腭裂女性的生殖模式。
Cleft Palate Craniofac J. 2011 Sep;48(5):601-7. doi: 10.1597/09-245. Epub 2010 Sep 8.
5
Folic acid flour fortification: impact on the frequencies of 52 congenital anomaly types in three South American countries.叶酸面粉强化：对三个南美国家 52 种先天畸形类型频率的影响。
Am J Med Genet A. 2010 Oct;152A(10):2444-58. doi: 10.1002/ajmg.a.33479.
6
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.外显子组测序鉴定出 MLL2 突变是歌舞伎综合征的一个病因。
Nat Genet. 2010 Sep;42(9):790-3. doi: 10.1038/ng.646. Epub 2010 Aug 15.
7
Evidence of gene-environment interaction for the IRF6 gene and maternal multivitamin supplementation in controlling the risk of cleft lip with/without cleft palate.IRF6 基因与母亲多维元素补充剂在控制唇裂伴/不伴腭裂风险中的基因-环境相互作用的证据。
Hum Genet. 2010 Oct;128(4):401-10. doi: 10.1007/s00439-010-0863-y. Epub 2010 Jul 23.
8
Valproic acid monotherapy in pregnancy and major congenital malformations.丙戊酸单药治疗与妊娠及主要先天畸形。
N Engl J Med. 2010 Jun 10;362(23):2185-93. doi: 10.1056/NEJMoa0907328.
9
Association between genetic variants of reported candidate genes or regions and risk of cleft lip with or without cleft palate in the polish population.波兰人群中已报道的候选基因或区域的遗传变异与唇裂伴或不伴腭裂风险之间的关联。
Birth Defects Res A Clin Mol Teratol. 2010 Jul;88(7):538-45. doi: 10.1002/bdra.20687.
10
A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4.一项关于唇裂伴或不伴腭裂的全基因组关联研究鉴定了 MAFB 和 ABCA4 附近的风险变异。
Nat Genet. 2010 Jun;42(6):525-9. doi: 10.1038/ng.580. Epub 2010 May 2.
Zotero 插件