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Identification of a Novel Variant of ARHGAP29 in a Chinese Family with Nonsyndromic Cleft Lip and Palate
Joint Authors
Wang, Kai
Jin, Jie-Yuan
Tang, Jian-Xia
Xiao, Xiang-Shui
Fan, Liang-Liang
Xiang, Rong
Source
Issue
Vol. 2020, Issue 2020 (31 Dec. 2020), pp.1-6, 6 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2020-10-23
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Abstract EN
Background.
Cleft lip with or without cleft palate (CL/P) is the most common facial birth defect, with a worldwide incidence of 1 in 700-1000 live births.
CL/P can be divided into syndromic CL/P (SCL/P) and nonsyndromic CL/P (NSCL/P).
Genetic factors are an important component to the etiology of NSCL/P.
ARHGAP29, one of the NSCL/P disease-causing genes, mediates the cyclical regulation of small GTP binding proteins such as RhoA and plays an essential role in cellular shape, proliferation, and craniofacial development.
Methods.
The present study investigated a Chinese family with NSCL/P and explored potential pathogenic variants using whole-exome sequencing (WES).
Variants were screened and filtered through bioinformatic analysis and prediction of variant pathogenicity.
Cosegregation was subsequently conducted.
Results.
We identified a novel heterozygous missense variant of ARHGAP29 (c.2615C > T, p.A872V) in a Chinese pedigree with NSCL/P.
Conclusion.
We detected the disease-causing variant in this NSCL/P family.
Our identification expands the genetic spectrum of ARHGAP29 and contributes to novel approaches to the genetic diagnosis and counseling of CL/P families.
American Psychological Association (APA)
Tang, Jian-Xia& Xiao, Xiang-Shui& Wang, Kai& Jin, Jie-Yuan& Fan, Liang-Liang& Xiang, Rong. 2020. Identification of a Novel Variant of ARHGAP29 in a Chinese Family with Nonsyndromic Cleft Lip and Palate. BioMed Research International،Vol. 2020, no. 2020, pp.1-6.
https://search.emarefa.net/detail/BIM-1137659
Modern Language Association (MLA)
Tang, Jian-Xia…[et al.]. Identification of a Novel Variant of ARHGAP29 in a Chinese Family with Nonsyndromic Cleft Lip and Palate. BioMed Research International No. 2020 (2020), pp.1-6.
https://search.emarefa.net/detail/BIM-1137659
American Medical Association (AMA)
Tang, Jian-Xia& Xiao, Xiang-Shui& Wang, Kai& Jin, Jie-Yuan& Fan, Liang-Liang& Xiang, Rong. Identification of a Novel Variant of ARHGAP29 in a Chinese Family with Nonsyndromic Cleft Lip and Palate. BioMed Research International. 2020. Vol. 2020, no. 2020, pp.1-6.
https://search.emarefa.net/detail/BIM-1137659
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1137659