Diagnosis of Joubert Syndrome 10 in a Fetus with Suspected Dandy-Walker Variant by WES: A Novel Splicing Mutation in OFD1
Joint Authors
Li, Zhuo
Wu, Lingqian
Liang, Desheng
Linpeng, Siyuan
Liu, Jing
Pan, Jianyan
Cao, Yingxi
Teng, Yanling
Source
Issue
Vol. 2018, Issue 2018 (31 Dec. 2018), pp.1-7, 7 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2018-11-15
Country of Publication
Egypt
No. of Pages
7
Main Subjects
Abstract EN
Joubert syndrome (JBTS) is a clinically and genetically heterogeneous group of ciliary diseases.
To date, 34 subtypes of JBTS have been classified due to different causative genes or extra clinical features.
Most of them are autosomal recessive, while only the subtype 10 (JBTS10) is a quite rare X-linked recessive disorder caused by OFD1 mutations with few reports.
In this study, by using whole exome sequencing (WES), a novel OFD1 splicing mutation (c.2488+2T>C) was identified in a male fetus with suspected Dandy-Walker variant (DWV) and syndactyly, for whom abnormal karyotype and pathogenic CNV have been excluded.
This mutation was inherited from the mother who has experienced two similar pregnancies before.
An abnormal skipping of exon 18 in OFD1 mRNA was confirmed by RT-PCR and sequencing.
Result from quantitative RT-PCR also showed that total OFD1 mRNA in the index fetus was significantly lower than the control.
After a combined analysis of genetic testing results and genotype-phenotype correlations, the novel mutation c.2488+2T>C in OFD1 was considered to be the genetic cause for the affected fetus.
Thus the diagnosis should be JBTS10 rather than the primary clinical diagnosis of DWV.
We report the first prenatal case of JBTS10 in Chinese population, which not only helps the family to predict recurrence risks for future pregnancies but also provides more information for understanding such a rare disease.
The results also present evidence that WES is an effective method in prenatal diagnosis for those fetuses with Joubert syndrome.
American Psychological Association (APA)
Linpeng, Siyuan& Liu, Jing& Pan, Jianyan& Cao, Yingxi& Li, Zhuo& Wu, Lingqian…[et al.]. 2018. Diagnosis of Joubert Syndrome 10 in a Fetus with Suspected Dandy-Walker Variant by WES: A Novel Splicing Mutation in OFD1. BioMed Research International،Vol. 2018, no. 2018, pp.1-7.
https://search.emarefa.net/detail/BIM-1126297
Modern Language Association (MLA)
Li, Zhuo…[et al.]. Diagnosis of Joubert Syndrome 10 in a Fetus with Suspected Dandy-Walker Variant by WES: A Novel Splicing Mutation in OFD1. BioMed Research International No. 2018 (2018), pp.1-7.
https://search.emarefa.net/detail/BIM-1126297
American Medical Association (AMA)
Linpeng, Siyuan& Liu, Jing& Pan, Jianyan& Cao, Yingxi& Li, Zhuo& Wu, Lingqian…[et al.]. Diagnosis of Joubert Syndrome 10 in a Fetus with Suspected Dandy-Walker Variant by WES: A Novel Splicing Mutation in OFD1. BioMed Research International. 2018. Vol. 2018, no. 2018, pp.1-7.
https://search.emarefa.net/detail/BIM-1126297
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1126297