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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

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

Xiang Jingjing J Zhang Lili L Jiang Wei W Zhang Qin Q Wang Ting T Li Haibo H Li Hong H

BioMed research international 20180531

<h4>Objective</h4>To diagnose and explore the genetic cause of Joubert syndrome (JS) in a fetus.<h4>Methods</h4>Prenatal ultrasound and magnetic resonance imaging (MRI) examinations were performed, and genetic analysis was conducted using targeted next-generation sequencing (NGS) and Sanger sequencing.<h4>Results</h4>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 k ...[more]

PMID: 29955609

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