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

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. , 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 (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 and contributes to novel approaches to the genetic diagnosis and counseling of CL/P families.