ELLIS-VAN CREVELD SYNDROME PRENATAL DIAGNOSIS, MOLECULAR ANALYSIS AND GENETIC COUNSELING
ELLIS-VAN CREVELD SYNDROME PRENATAL DIAGNOSIS, MOLECULAR ANALYSIS AND GENETIC COUNSELING
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DOI：
10.1016/s1028-4559(10)60101-5
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发表时间：
2010-12-01
影响因子：
2.1
通讯作者：
Wang, Wayseen
中科院分区：
文献类型：
--
作者：
Chen, Chih-Ping;Su, Yi-Ning;Wang, Wayseen
目的：介绍围产期的结果和分子遗传学分析的两个兄弟姐妹与Ellis-van Creveld（EvC）syndrome.Materials，方法和结果：一个33岁的女人，孕3，帕拉1，被称为遗传咨询在18孕周，因为经常性的胎儿骨骼发育不良。两年前，她在妊娠28周时分娩了一个1，316-g的死男婴，核型为46，XY，手轴后多指（趾）畸形，胸廓狭窄，内膜垫缺损，大动脉转位，长骨缩短，脚趾错位和指甲发育不良。在这次妊娠中，18孕周的产前超声显示长骨缩短（相当于15周），双手轴后多指（趾），胸廓狭窄和内嵴垫缺陷。随后终止妊娠，分娩了一个236 g的女性胎儿，核型为46，XX，手轴后多指畸形，胸廓发育不良，内嵴垫缺陷，长骨缩短，脚趾错位和指甲发育不全。两个兄弟姐妹的表型均符合EVC综合征。EVC和EVC 2基因的分子分析揭示了EVC 2基因的杂合突变。在母亲和两个兄弟姐妹中发现EVC 2基因内含子7和外显子8连接处的c.871-2_894del26的26-bp缺失的杂合性缺失突变，在父亲和两个兄弟姐妹中发现EVC 2基因外显子10的c.1195C>T，p.R399X的杂合性无义突变。产前超声检查发现与长骨缩短相关的骨内膜垫缺损应提醒临床医生注意EvC综合征的可能性，并提示仔细检查手的六指畸形。EVC和EVC 2基因的分子分析有助于产前检测到轴后多指（趾）畸形、胸廓狭窄、短肢和内趾垫缺陷的病例的遗传咨询。[台湾妇产科杂志2010;49（4）：481-486]
Objective: To present the perinatal findings and molecular genetic analysis of two siblings with Ellis-van Creveld (EvC) syndrome.Materials, Methods and Results: A 33-year-old woman, gravida 3, para 1, was referred for genetic counseling at 18 gestational weeks because of recurrent fetal skeletal dysplasia. Two years previously, she had delivered a 1,316-g dead male baby at 28 gestational weeks with a karyotype of 46,XY, postaxial polydactyly of the hands, thoracic narrowness, endocardial cushion defects, transposition of the great arteries, shortening of the long bones, malposition of the toes, and hypoplastic nails. During this pregnancy, prenatal ultrasound at 18 gestational weeks revealed shortening of the long bones (equivalent to 15 weeks), postaxial polydactyly of both hands, thoracic narrowness, and endocardial cushion defects. The pregnancy was subsequently terminated, and a 236-g female fetus was delivered with a karyotype of 46,XX, postaxial polydactyly of the hands, thoracic dysplasia, endocardial cushion defects, shortening of the long bones, and malposition of the toes and hypoplastic nails. The phenotype of each of the two siblings was consistent with EVC syndrome. Molecular analysis of the EVC and EVC2 genes revealed heterozygous mutations in the EVC2 gene. A heterozygous deletion mutation of a 26-bp deletion of c.871-2_894del26 encompassing the junction between intron 7 and exon 8 of the EVC2 gene was found in the mother and two siblings, and a heterozygous nonsense mutation of c.1195C>T, p.R399X in exon 10 of the EVC2 gene was found in the father and two siblings.Conclusion: Prenatal sonographic identification of endocardial cushion defects in association with shortening of the long bones should alert clinicians to the possibility of EvC syndrome and prompt a careful search of hexa-dactyly of the hands. Molecular analysis of the EVC and EVC2 genes is helpful in genetic counseling in cases with prenatally detected postaxial polydactyly, thoracic narrowness, short limbs and endocardial cushion defects. [Taiwan J Obstet Gynecol 2010;49( 4):481-486]