Identification of a novel SYNGAP1 mutation in a child with intellectual disability / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 716-719, 2019.
Artículo
en Chino
| WPRIM
| ID: wpr-776822
ABSTRACT
OBJECTIVE@#To report on a child with mental retardation caused by SYNGAP1 gene mutation.@*METHODS@#Peripheral blood samples were collected from the proband and her parents. High throughput sequencing (HTS) was employed for screening for potential mutation in the patient. Suspected mutation was validated by Sanger sequencing of the child and her parents.@*RESULTS@#By HTS, a previously unknown mutation [c.1656C>A (p.C552*)] was found in exon 10 of the SYNGAP1 gene in the proband. Sanger sequencing confirmed the heterozygous nature of the mutation and that neither of her parents carried the same mutation.@*CONCLUSION@#The dysmorphism and developmental delay of the child were probably due to the pathogenic mutation of the SYNGAP1 gene. HTS can facilitate elucidation of the genetic etiology with efficiency, which has great significance in the diagnosis, treatment and prognosis of the child.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Exones
/
Proteínas Activadoras de ras GTPasa
/
Secuenciación de Nucleótidos de Alto Rendimiento
/
Genética
/
Heterocigoto
/
Discapacidad Intelectual
/
Mutación
Tipo de estudio:
Estudio diagnóstico
Límite:
Niño
/
Femenino
/
Humanos
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2019
Tipo del documento:
Artículo
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