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.
Artículo
en Chino
| 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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Ovinos
/
Genómica
/
Factores de Transcripción SOXD
/
Secuenciación del Exoma
/
Heterocigoto
/
Mutación
Tipo de estudio:
Estudio pronóstico
Límite:
Animales
/
Humanos
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2021
Tipo del documento:
Artículo
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