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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.

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