摘要本研究报道1例CYP11B1基因新突变致11β-羟化酶缺陷症（11β-OHD）的患者家系，对其临床及其遗传学特征进行了分析。回顾性分析2014年5月16日在空军特色医学中心内分泌科就诊的1例顽固性高血压患者的临床资料，临床确诊为先天性肾上腺皮质增生症。进一步收集先证者临床资料，采集患者、父母及其姐姐的外周血样进行CYP11B1（NM_000497）基因测序，提示患者存在外显子1：c.199delG，p.Glu67Lysfs*9和外显子5：c.905_907 delATGinsTT，p.Asp302Valfs*23复合杂合突变，均为致病变异。患者父亲和姐姐携带外显子1：c.199delG，p.Glu67Lysfs*9杂合突变，母亲携带外显子 5：c.905_907delATGinsTT，p.Asp302Valfs*23杂合突变。本研究首次报道了CYP11B1基因外显子1 c.199delG和外显子5 c.905_907 delATGinsTT新复合杂合突变，不仅丰富了11β-OHD突变数据库，也为深入理解该疾病的遗传机制提供信息。

abstractsThis study reports a family of patients with 11β-hydroxylase deficiency (11β-OHD) caused by a novel mutation in the CYP11B1 gene, and analyzes its clinical and genetic characteristics. The clinical data of a patient with intractable hypertension at Air Force Medical Center on May 16, 2014 were retrospectively analyzed. The patient was clinically diagnosed with congenital adrenal cortical hyperplasia. The clinical data of the patient were further collected and the peripheral blood samples of the patient, his parents and his sister were collected for CYP11B1(NM_000497) gene sequencing, suggesting that the patient had compound heterozygous mutations in exon 1:c.199delG, p.Glu67Lysfs*9 and exon 5:c.905_907 delATGinsTT, p.Asp302Valfs*23, both of which were pathogenic variants. The patient′s father and sister carried heterozygous mutations in exon 1:c.199delG, p.Glu67Lysfs*9, and the mother carried heterozygous mutations in exon 5:c.905_907delATGinsTT, p.Asp302Valfs*23. This study is the first to report a new compound heterozygous mutation in exon 1:c.199delG and exon 5 c.905_907 delATGinsTT of CYP11B1 gene, enriching the database of 11β-OHD mutations and providing information to further understand the genetic mechanism of the disease.