Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan.
Taiwan J Obstet Gynecol. 2012 Mar;51(1):100-5. doi: 10.1016/j.tjog.2012.01.020.
To demonstrate perinatal imaging findings and to investigate the mutation in the NEK1 gene in a fetus with type II short rib-polydactyly syndrome (SRPS) (Majewski).
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.
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.
展示胎儿 II 型短肋-多指（趾）综合征（Majewski）的围产期影像学表现，并探讨 NEK1 基因突变。
一位 34 岁的女性，曾有胎儿 SRPS 病史，因胎儿超声诊断为短肢而被转诊至医院。胎儿超声显示肋骨短小、四肢短小、胫骨缺失、多指（趾）、并指（趾）和脉络丛囊肿。在 21 孕周时，发现多囊肾。妊娠终止，娩出的胎儿存在面部畸形、正中唇裂、胸廓狭窄、肢体短小、胫骨发育不良、指甲发育不良、并指（趾）和轴后多指（趾）。核型为 46,XX。胎儿组织的分子分析显示，NEK1 基因第 7 内含子（c.465-1 G>A）存在父源杂合性剪接位点突变，而 WDR35、DYNC2H1、IFT80、EVC 和 EVC2 基因均无突变。NEK1 突变导致第 7 内含子（IVS7-1 G>A）剪接受体位点改变。未发现第二个突变。
胫骨发育不良、脉络丛囊肿和多囊肾可作为 II 型 SRPS 的显著产前超声表现。本病例为 NEK1 突变与 II 型 SRPS 相关提供了证据。
