Prenatal Diagnosis and Genetic Analysis of a Fetus with Joubert Syndrome.

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.

SUBMITTER: Xiang J 

PROVIDER: S-EPMC6000882 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature