Objective: To explore the genetic basis for a proband with Shprintzen-Goldberg syndrome (SGS).
Methods: Whole exome sequencing was carried out to detect potential variants associated with the relevant phenotypes. Candidate variants were verified by Sanger sequencing of the patient and her family.
Results: DNA sequencing revealed that that the proband has carried a de novo heterozygous missense c.94C>G (p.Leu32Val) variant in exon 1 of the SKI gene (NM_003036), which has been reported previously. The same variant was not detected in either parent. Based on the guidelines of the American College of Medical Genetics and Genomics, the variant was predicted to be pathogenic (PS1+PS2+PM1+PM2+PP2+PP3).
Conclusion: The SKI c.94C>G (p. Leu32Val) variant probably underlay the autosomal dominant SGS in this patient.