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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Detalles Bibliográficos
Autores principales: Xiang, Jingjing, Zhang, Lili, Jiang, Wei, Zhang, Qin, Wang, Ting, Li, Haibo, Li, Hong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6000882/
https://www.ncbi.nlm.nih.gov/pubmed/29955609
http://dx.doi.org/10.1155/2018/7202168
Descripción
Sumario: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.

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