Analysis of phenotype and genetic variant in a family with Shprintzen-Goldberg syndrome

VernacularTitle:一个Shprintzen-Goldberg综合征家系的表型与基因变异分析
Author: Jiamin SHI ¹ ; Junhui SUN ; Yuan CHEN ; Mianmian ZHU ; Qiu WANG ; Chaosheng LU ; Dan WANG
Author Information

1. 温州医科大学附属第一医院儿科，浙江　325000
Keywords: Shprintzen-Goldberg syndrome; SKI genes; Heterozygous variant; Autosomal dominant inheritance
From: Chinese Journal of Medical Genetics 2022;39(7):703-707
CountryChina
Language:Chinese
Abstract: 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.