RESUMEN
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.
Asunto(s)
Animales , Humanos , Genómica , Heterocigoto , Mutación , Factores de Transcripción SOXD/genética , Ovinos , Secuenciación del ExomaRESUMEN
We compared the T cell antigen receptor [TCR-BV] gene families of peripheral blood mononuclear cells [PMBC] between children with tuberculosis [TB] and those inoculated with the Bacille Calmette Guerin [BCG] vaccine. The total RNA was extracted from PMBC of 15 TB children, 15 BCG-vaccinated children and 15 healthy controls. The RNAs were reverse-transcribed and amplified by polymerase chain reaction [PCR]. PCR products were separated on 1.5% agarose gel and analyzed with the Genescan technique. Some TCR-BV gene families in TB children and BCG-vaccinated children exhibited a blur band in the predicted position on 1.5% agarose gel, some showed a distinct or fainted band. In general, many shared predominant clonal TCR-BV gene families [V beta2, V beta16, V beta21, V beta22] and the restricted-expression families [V beta14 and V beta17]. All the gene families of the control children only exhibited blur bands and polyclonal. The skewed profile of TCR-BV gene families in TB children and BCG-vaccinated children are similar, which may probably explain the protective effects of BCG-vaccine against TB in children