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Chinese Journal of Medical Genetics ; (6): 765-767, 2021.
Article in Chinese | WPRIM | ID: wpr-888390

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.


Subject(s)
Animals , Humans , Genomics , Heterozygote , Mutation , SOXD Transcription Factors/genetics , Sheep , Exome Sequencing
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