Yuan Qiuping, Blanton Susan H, Hecht Jacqueline T
Adv Otorhinolaryngol. 2011;70:107-113. doi: 10.1159/000322486. Epub 2011 Feb 24.
Nonsyndromic cleft lip with or without an associated cleft palate (NSCLP) is one of the most common birth defects affecting 135,000 babies worldwide each year. It causes severe facial dysmorphism and treatment requires a multifaceted team approach. While treatment modalities have improved, the costs to families and the health care resources are still enormous. The causes of NSCLP are multifactorial with both genetic and environmental factors. Progress is being made towards defining the genetic variation underpinning NSCLP by utilizing gene discovery techniques including genome wide linkage, association mapping and a candidate gene approaches. To date, approximately 20% of the genetic contributions to NSCLP have been assigned to a small number of genes. This chapter provides a review of recent progress in defining the genetic causes of NSCLP.
非综合征性唇裂伴或不伴腭裂（NSCLP）是最常见的出生缺陷之一，每年影响全球13.5万名婴儿。它会导致严重的面部畸形，治疗需要多学科团队协作。尽管治疗方式有所改进，但家庭负担和医疗资源消耗仍然巨大。NSCLP的病因是多因素的，包括遗传和环境因素。通过运用全基因组连锁分析、关联图谱分析和候选基因法等基因发现技术，在确定导致NSCLP的基因变异方面正在取得进展。迄今为止，约20%的NSCLP遗传因素已归因于少数基因。本章综述了在确定NSCLP遗传病因方面的最新进展。
