Unknown

Dataset Information

0

Identification of a Novel Variant of ARHGAP29 in a Chinese Family with Nonsyndromic Cleft Lip and Palate.


ABSTRACT: 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.

SUBMITTER: Tang JX 

PROVIDER: S-EPMC7603555 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature

altmetric image

Publications

Identification of a Novel Variant of <i>ARHGAP29</i> in a Chinese Family with Nonsyndromic Cleft Lip and Palate.

Tang Jian-Xia JX   Xiao Xiang-Shui XS   Wang Kai K   Jin Jie-Yuan JY   Fan Liang-Liang LL   Xiang Rong R  

BioMed research international 20201023


<h4>Background</h4>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. <i>ARHGAP29</i>, 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, prolife  ...[more]

Similar Datasets

| S-EPMC10539090 | biostudies-literature
| S-EPMC4623315 | biostudies-literature
| S-EPMC5349912 | biostudies-literature
| S-EPMC8703930 | biostudies-literature
| S-EPMC4585452 | biostudies-literature
| S-EPMC4098909 | biostudies-literature
| S-EPMC7080719 | biostudies-literature
| S-EPMC6105370 | biostudies-literature
| S-EPMC2991560 | biostudies-literature
| S-EPMC6900437 | biostudies-literature