Short rib-polydactyly syndrome type II (Majewski): prenatal diagnosis, perinatal imaging findings and molecular genetic analysis

ASIA unversity > 醫學暨健康學院 > 生物科技學系 > 期刊論文 > Item 310904400/16842

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题名:	Short rib-polydactyly syndrome type II (Majewski): prenatal diagnosis, perinatal imaging findings and molecular genetic analysis
作者:	陳持平;Chen, Chih-Ping
贡献者:	生物科技學系
关键词:	NEK1;prenatal diagnosis;type II short rib-polydactyly syndrome (Majewski);ultrasound
日期:	2012-03
上传时间:	2012-11-23 09:17:37 (UTC+0)
摘要:	"Objective: To demonstrate perinatal imaging ﬁndings and to investigate the mutation in the NEK1 gene in a fetus with type II short ribpolydactyly syndrome (SRPS) (Majewski). Case Report: A 34-year-old woman with a past history of fetal SRPS was referred to the hospital at 16 weeks of gestation because of sonographic diagnosis of short limbs in the fetus. Fetal ultrasound revealed short ribs, short limbs, absence of tibiae, polydactyly, syndactyly and choroid plexus cysts. At 21 weeks of gestation, polycystic kidneys were found. The pregnancy was terminated, and a fetus was delivered with facial dysmorphism, a median cleft lip, a narrow chest, micromelia, aplasia of tibiae, hypoplastic nails, syndactyly and postaxial polydactyly. The karyotype was 46,XX. Molecular analysis of fetal tissues showed a paternal-origin heterozygous splice site mutation in intron 7 (c.465-1 G>A) in the NEK1 gene, but no mutations in the genes of WDR35, DYNC2H1, IFT80, EVC and EVC2. The NEK1 mutation causes an alteration of the splice acceptor site of intron 7 (IVS7-1 G>A). No second mutation was identiﬁed. Conclusion: Tibial aplasia, choroid plexus cysts and polycystic kidneys can be prominent prenatal ultrasound ﬁndings of type II SRPS. The present case provides evidence for a correlation of NEK1 mutation with type II SRPS. Copyright 2012, Taiwan Association of Obstetrics & Gynecology. Published by Elsevier Taiwan LLC. All rights reserved."
關聯:	Taiwanese Journal of Obstetrics & Gynecology
显示于类别:	[生物科技學系] 期刊論文

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