Prenatal Diagnosis and Genetic Analysis of a Fetus with Joubert Syndrome
Joint Authors
Li, Haibo
Li, Hong
Xiang, Jingjing
Zhang, Lili
Jiang, Wei
Zhang, Qin
Wang, Ting
Source
Issue
Vol. 2018, Issue 2018 (31 Dec. 2018), pp.1-6, 6 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2018-05-31
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Xiang, Jingjing& Zhang, Lili& Jiang, Wei& Zhang, Qin& Wang, Ting& Li, Haibo…[et al.]. 2018. Prenatal Diagnosis and Genetic Analysis of a Fetus with Joubert Syndrome. BioMed Research International،Vol. 2018, no. 2018, pp.1-6.
https://search.emarefa.net/detail/BIM-1128323
Modern Language Association (MLA)
Xiang, Jingjing…[et al.]. Prenatal Diagnosis and Genetic Analysis of a Fetus with Joubert Syndrome. BioMed Research International No. 2018 (2018), pp.1-6.
https://search.emarefa.net/detail/BIM-1128323
American Medical Association (AMA)
Xiang, Jingjing& Zhang, Lili& Jiang, Wei& Zhang, Qin& Wang, Ting& Li, Haibo…[et al.]. Prenatal Diagnosis and Genetic Analysis of a Fetus with Joubert Syndrome. BioMed Research International. 2018. Vol. 2018, no. 2018, pp.1-6.
https://search.emarefa.net/detail/BIM-1128323
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1128323