Variant analysis of SOX5 gene in a Lamb-Shaffer syndrome family.
10.3760/cma.j.cn511374-20210126-00077
- Author:
Jinghe CAO
1
;
Jianwei LI
;
Yuqin ZHANG
;
Huanfu NIU
;
Yongan ZHOU
;
Zhe LI
;
Baogang SUN
;
Zewu LI
Author Information
1. Affiliated Hospital of Jining Medical University, Jining, Shandong 272029, China. sbg1982131@163.com.
- Publication Type:Journal Article
- MeSH:
Animals;
Genomics;
Heterozygote;
Humans;
Mutation;
SOXD Transcription Factors/genetics*;
Sheep;
Whole Exome Sequencing
- From:
Chinese Journal of Medical Genetics
2021;38(8):765-767
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for a case of Lamb-Shaffer syndrome.
METHODS:Genomic DNA was extracted from peripheral blood samples and subjected to whole exome sequencing(WES). Suspected variant was verified by Sanger sequencing.
RESULTS:The patients was found to harbor a heterozygous c.1495delA(p.Thr499Glnfs*5) frameshift variant of the SOX5 gene by WES. Sanger sequencing confirmed that the same variant was a de novo variant. Based on the American College of Medical Genetics and Genomics guidelines, c.1495delA(p.Thr499Glnfs*5) variant of the SOX5 gene was predicted to be pathogenic (PVS1+PS2+PM2).
CONCLUSION:The c.1495delA(p.Thr499Glnfs*5) variant of the SOX5 gene probably underlies the Lamb-Shaffer syndrome in this patient.
