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....

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Bibliographic Details
Published in:BioMed research international 2018-01, Vol.2018 (2018), p.1-6
Main Authors: Li, Hong, Wang, Ting, Zhang, Qin, Jiang, Wei, Zhang, Lili, Xiang, Jingjing, Li, Haibo
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - diagnosis
Abnormalities, Multiple - genetics
Adult
Annealing
Biomedical research
Brain
Cerebellum
Cerebellum - abnormalities
Congenital defects
Consent
Data analysis
Deoxyribonucleic acid
Diagnosis
Diagnostic imaging
DNA
DNA sequencing
Eye Abnormalities - diagnosis
Eye Abnormalities - genetics
Family medical history
Female
Fetus
Fetuses
Gene sequencing
Genes
Genetic analysis
Genetic aspects
Genetic counseling
Genetic testing
Genetics
Genomes
Genomics
Health aspects
Humans
Hypoplasia
Kidney Diseases, Cystic - diagnosis
Kidney Diseases, Cystic - genetics
Magnetic Resonance Imaging
Membrane Proteins - genetics
Neurodevelopmental disorders
NMR
Nuclear magnetic resonance
Nucleotide sequencing
Pregnancy
Pregnant women
Prenatal Diagnosis
Retina - abnormalities
Teeth
Ultrasonic imaging
Ultrasonic testing
Ultrasound
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Description
Summary: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.
ISSN:2314-6133
2314-6141
DOI:10.1155/2018/7202168