遗传性先天性面神经麻痹是一罕见的遗传性先天性疾病，常染色体显性、隐性遗传家系或散发患者均有报道，具有一定遗传异质性。1996年首次定位至今，共有3个致病基因位点被报道，但仅有一个致病基因-HOXB1-被鉴定发现，提示仍有新的致病基因有待被鉴定发现。本课题组目前收集到4个遗传性先天性面神经麻痹家系及3例散发患者，Sanger测序未在其先证者或患者发现HOXB1基因有意义突变，提示可能存在未知的致病基因突变致病，是开展遗传性先天性面神经麻痹致病基因鉴定研究的宝贵遗传资源。下一代测序技术的出现，为遗传性疾病致病基因鉴定研究开辟了新的道路，尤其为小家系或散发病例的致病基因鉴定研究提供了有力的研究手段。本课题组拟应用基于下一代测序技术的全基因组测序技术，结合全基因组扫描、单体型分析等研究方法，鉴定遗传性先天性面神经麻痹的致病基因，为揭示该疾病的发病机制奠定基础。

Hereditary congenital facial palsy is a rare hereditary congenital disease, which could be autosomal dominant inherited, autosomal recessive inherited or sporadic. There were three causative gene loci reported since 1996. However, only one causative gene - HOXB1 was identified. Most causative genes of hereditary congenital facial palsy pedigrees and sporadic patients were still unknown. We have collected four hereditary congenital facial palsy pedigrees and three sporadic patients. No causative mutation in HOXB1 was found in these pedigrees and patients by using Sanger sequencing. This indicates that novel causative genes of hereditary congenital facial palsy could be identified in these pedigrees and patients. Next-generation sequencing is a powerful tool to identify causative gene of hereditary disease, especially for small pedigrees and sporadic patients. In this study, we will perform Whole-genome sequencing, combining with Whole-genome scan and haplotype analysis to identify the novel causative gene of hereditary congenital facial palsy. This will offer clues for further molecular pathogenesis study of hereditary congenital facial palsy.