Haploinsufficiency is a form of genetic dominance and is the underlying mechanism of numerous human inherited conditions in which the causal genes are sensitive to altered dosage. This review examines the poorly understood relationships between haploinsufficiency, dosage sensitivity and genetic dominance, whose common theme is the existence of nonlinear relationships between genotype and phenotype. We present an up‐to‐date account of the bases of haploinsufficiency from the perspective of theoretical and experimental models. We also discuss human conditions caused by haploinsufficiency, including developmental syndromes and cancer. Connections between the understanding of these conditions' genetic mechanisms and advances in treatments are also described.

中文翻译：

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单倍剂量不足的原因和影响

单倍剂量不足是遗传优势的一种形式，并且是许多人类遗传疾病的潜在机制，其中因果基因对改变的剂量敏感。本综述探讨了单倍剂量不足、剂量敏感性和遗传优势之间的关系知之甚少，其共同主题是基因型和表型之间存在非线性关系。我们从理论和实验模型的角度对单倍剂量不足的基础进行了最新说明。我们还讨论了由单倍体不足引起的人类疾病，包括发育综合征和癌症。还描述了对这些疾病遗传机制的理解与治疗进展之间的联系。