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Genetic Analysis in Fetal Skeletal Dysplasias by Trio Whole-Exome Sequencing
Joint Authors
Tian, Yaping
Dong, Zhe
Yang, Kai
Shen, Ming
Yan, Yousheng
Tan, Ya
Zhang, Jing
Wu, Jue
Yang, Guangming
Li, Shang
Wang, Jing
Ren, Zhuo
Wang, Shan
Zhang, Manli
Source
Issue
Vol. 2019, Issue 2019 (31 Dec. 2019), pp.1-8, 8 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2019-05-14
Country of Publication
Egypt
No. of Pages
8
Main Subjects
Abstract EN
Skeletal dysplasias (SDs) comprise a series of severe congenital disorders that have strong clinical heterogeneity and usually attribute to diverse genetic variations.
The pathogenesis of more than half of SDs remains unclear.
Additionally, the clinical manifestations of fetal SDs are ambiguous, which poses a big challenge for accurate diagnosis.
In this study, eight unrelated families with fetal SD were recruited and subjected to sequential tests including chromosomal karyotyping, chromosomal microarray analysis (CMA), and trio whole-exome sequencing (WES).
Sanger sequencing and quantitative fluorescence PCR (QF-PCR) were performed as affirmative experiments.
In six families, a total of six pathogenic/likely pathogenic variations were identified in four genes including SLC26A2, FGFR3, FLNB, and TMEM38B.
These variations caused disorders following autosomal dominant or autosomal recessive inheritance patterns, respectively.
The results provided reliable evidence for the subsequent genetic counseling and reproductive options to these families.
With its advantage in variation calling and interpreting, trio WES is a promising strategy for the investigation of fetal SDs in cases with normal karyotyping and CMA results.
It has considerable prospects to be utilized in prenatal diagnosis.
American Psychological Association (APA)
Yang, Kai& Shen, Ming& Yan, Yousheng& Tan, Ya& Zhang, Jing& Wu, Jue…[et al.]. 2019. Genetic Analysis in Fetal Skeletal Dysplasias by Trio Whole-Exome Sequencing. BioMed Research International،Vol. 2019, no. 2019, pp.1-8.
https://search.emarefa.net/detail/BIM-1123870
Modern Language Association (MLA)
Yang, Kai…[et al.]. Genetic Analysis in Fetal Skeletal Dysplasias by Trio Whole-Exome Sequencing. BioMed Research International No. 2019 (2019), pp.1-8.
https://search.emarefa.net/detail/BIM-1123870
American Medical Association (AMA)
Yang, Kai& Shen, Ming& Yan, Yousheng& Tan, Ya& Zhang, Jing& Wu, Jue…[et al.]. Genetic Analysis in Fetal Skeletal Dysplasias by Trio Whole-Exome Sequencing. BioMed Research International. 2019. Vol. 2019, no. 2019, pp.1-8.
https://search.emarefa.net/detail/BIM-1123870
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1123870