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