DHCR7基因复合杂合变异致新生儿Smith-Lemli-Opitz综合征1例  

A neonate with Smith-Lemli-Opitz syndrome caused by DHCR7 gene compound heterozygous variations

作　　者：凌鸣 钟炽娟 黄芙蓉 徐俊 赵梦华 黄丽[1] 张爱民[1] Ling Ming;Zhong Chijuan;Huang Furong;Xu Jun;Zhao Menghua;Huang Li;Zhang Aimin(Department of Neonatology,the First Affiliated Hospital of Hunan Normal University,Hunan Provincial People's Hospital,Hunan Provincial Key Laboratory of Children's Respiratory Disease,Changsha 410000,China)

机构地区：[1]湖南师范大学第一附属医院,湖南省人民医院新生儿科,儿童呼吸病学湖南省重点实验室,长沙410000

出　　处：《中华围产医学杂志》2022年第2期146-149,共4页Chinese Journal of Perinatal Medicine

基　　金：湖南省出生缺陷协同防治科技重大专项(2019SK1010);湖湘高层次人才聚集工程-创新人才项目(2021RC5014)。

摘　　要：本文报告了1例DHCR7基因复合杂合变异导致的Smith-Lemli-Opitz综合征(Smith-Lemli-Opitz syndrome,SLOS)患儿。患儿生后即起病,以“多发畸形、喂养困难”为主诉从当地医院转诊至湖南师范大学第一附属医院(湖南省人民医院)。入院时体格检查见全身硬肿、头皮缺损、阴茎短、尿道畸形、双足第2和3趾并指畸形,血清胆固醇低。通过全外显子组及Sanger测序发现患儿DHCR7基因复合杂合变异[c.852C>A(p.F284L)和c.820_825del(p.N274_V275del)],其中c.820_825del(p.N274_V275del)尚未见报道,为新发现的变异位点。SLOS在亚洲人口中较为罕见,易漏诊和误诊,临床诊断和处理较为棘手。对于出现多发畸形且血清胆固醇低的患儿要考虑SLOS的可能。This article reported a male neonate with Smith-Lemli-Opitz syndrome(SLOS)caused by DHCR7 gene compound heterozygous variations.The patient presented with multiple malformations and feeding difficulties after birth and was transferred to the First Affiliated Hospital of Hunan Normal University(Hunan Provincial People's Hospital)from a local hospital eight days later.Physical examination found general scleredema,scalp defects,short penis,urinary tract malformation,bilateral syndactyly of the second and third toes,and low serum cholesterol.Whole-exome and Sanger sequencing indicated a compound heterozygous mutation in the DHCR7 gene,c.852C>A(p.F284L),and a de novo mutation of c.820_825del(p.N274_V275del).SLOS is rare in the Asian populations and prone to missed diagnosis and misdiagnosis with difficulty in clinical management.The possibility of SLOS should be considered for newborns with multiple malformations and low serum cholesterol.

关 键 词：Smith-Lemli-Opitz综合征 氧化还原酶类(作用于CH-CH键供体) 杂合子 遗传变异 婴儿 新生 

分 类 号：R725.9[医药卫生—儿科]