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Kelsey Robinson¹, Sarah W Curtis¹, Elizabeth J Leslie¹

¹Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA.

Trends in genetics : TIG

|March 13, 2024

概括

遗传因素有助于口腔口腔裂 (OFCs),其中包括口唇裂 (CL),口唇裂和 palatal裂 (CLP) 和 palatal裂 (CP). 研究表明,在这些OFC亚型中,有共同的和独特的遗传风险.

科学领域:

遗传学是一个遗传学.
发育生物学发展生物学
公共卫生公共卫生

背景情况:

耳面裂 (OFC) 是一种常见的出生缺陷,在全球范围内,每1000例活产儿中约有1例发生.
OFCs具有广泛的表型谱,包括裂唇 (CL),裂唇和 palates (CLP) 和裂 palates (CP),其侧面性和严重程度各不相同.
了解OFCs的遗传基础对于诊断,预防和治疗策略至关重要.

研究的目的:

审查目前对基因架构的理解,这些基因架构是不同类型的口腔裂的基础.
探索与OFCs相关的共同和亚型特定的遗传风险因素.
突出大样本大小和详细的表型化对OFCs未来遗传发现的重要性.

主要方法:

对现有基因研究的文献综述关于 orofacial裂.
分析各种OFC亚型 (CL,CLP,CP) 之间的遗传相似性和差异.
综合关于共同和特定遗传风险因素的发现.

主要成果:

虽然口唇裂 (CL) 和口唇裂和 palatal裂 (CLP) 比 palatal裂 (CP) 有更多已知的遗传相似之处,但最近的研究表明,它们都有共同的和独特的遗传风险因素.
遗传风险因素可以在特定的OFC亚型内以及在不同的表型分类中运行.
OFCs的遗传结构复杂,有证据表明常见和罕见的变异都会导致风险.

结论:

遗传因素在 orofacial 裂的病因学中起着重要作用,在亚型之间有不同的贡献.
未来的研究需要更大的队列和更全面的表型数据,以充分阐明OFC及其亚型的遗传情景.
识别特定亚型的遗传风险对于进一步了解和开发针对 orofacial 裂的有针对性的干预措施至关重要.

关键词:

嘴唇裂口是一个问题.裂口口腔的 palatum 是一个口腔的裂口.遗传异质性的遗传异质性面部或脸部的裂.现象型异质性的异质性

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