|Abstract: ||"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."