Variant analysis of SOX5 gene in a Lamb-Shaffer syndrome family / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 765-767, 2021.
Article
in Zh
| WPRIM
| ID: wpr-888390
Responsible library:
WPRO
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.
Full text:
1
Index:
WPRIM
Main subject:
Sheep
/
Genomics
/
SOXD Transcription Factors
/
Exome Sequencing
/
Heterozygote
/
Mutation
Type of study:
Prognostic_studies
Limits:
Animals
/
Humans
Language:
Zh
Journal:
Chinese Journal of Medical Genetics
Year:
2021
Type:
Article