Prenatal Diagnosis and Genetic Analysis of a Fetus with Joubert Syndrome

Biomed Res Int. 2018 May 31:2018:7202168. doi: 10.1155/2018/7202168. eCollection 2018.

Abstract

Objective: To diagnose and explore the genetic cause of Joubert syndrome (JS) in a fetus.

Methods: Prenatal ultrasound and magnetic resonance imaging (MRI) examinations were performed, and genetic analysis was conducted using targeted next-generation sequencing (NGS) and Sanger sequencing.

Results: Prenatal ultrasound and MRI examinations showed cerebellar vermis hypoplasia and molar tooth sign (MTS); hence the fetus was diagnosed with JS. Further genetic analysis revealed a known missense variant (c.3599C>T, p.A1200V) and a novel missense variant (c.3857G>A, p.R1286H) in the C5orf42 gene of the fetus.

Conclusion: Our study provides insights into prenatal and early diagnosis of JS and expands the variation spectrum of C5orf42 gene.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / genetics
  • Adult
  • Cerebellum / abnormalities*
  • Eye Abnormalities / diagnosis*
  • Eye Abnormalities / genetics
  • Female
  • Fetus
  • Humans
  • Kidney Diseases, Cystic / diagnosis*
  • Kidney Diseases, Cystic / genetics
  • Magnetic Resonance Imaging
  • Membrane Proteins / genetics*
  • Pregnancy
  • Prenatal Diagnosis*
  • Retina / abnormalities*

Substances

  • CPLANE1 protein, human
  • Membrane Proteins

Supplementary concepts

  • Agenesis of Cerebellar Vermis