Intellectual disability due to heterozygous c.40C>T variant of TRIP12 gene in a patient / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 131-133, 2021.
Artículo
en Chino
| WPRIM
| ID: wpr-879538
ABSTRACT
OBJECTIVE@#To explore the genetic basis for a patient with intellectual disability.@*METHODS@#Whole exome sequencing and Sanger sequencing were carried out for the patient. The result was verified in her family.@*RESULTS@#DNA sequencing revealed that the patient has carried a heterozygous nonsense c.40C>T (p.Arg14X) variant of the TRIP12 gene, which was de novo in origin. The variant was unrecorded in the Human Gene Mutation Database. Based on the American College of Medical Genetics and Genomics standards and guidelines, the variant was predicted to be pathogenic (PVS1+ PS2+ PP3).@*CONCLUSION@#The patient was diagnosed with autosomal dominant intellectual disability due to heterozygous c.40C>T variant of the TRIP12 gene.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Proteínas Portadoras
/
Codón sin Sentido
/
Ubiquitina-Proteína Ligasas
/
Secuenciación del Exoma
/
Heterocigoto
/
Discapacidad Intelectual
Tipo de estudio:
Guía de Práctica Clínica
Límite:
Femenino
/
Humanos
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2021
Tipo del documento:
Artículo
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