Variation analysis of EPG5 gene in a Vici syndrome family / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 189-193, 2022.
Artículo
en Chino
| WPRIM
| ID: wpr-928386
ABSTRACT
OBJECTIVE@#To explore the genetic etiology of Vici syndrome in a Chinese family.@*METHODS@#Whole exome sequencing (WES) technology was used to detect gene variants in a fetus of abnormal ultrasonic structure without abnormalities in routine chromosome karyotype analysis and SNP-array. Sanger sequencing and bioinformatics prediction were performed for the suspected variants of the fetus and parents.@*RESULTS@#The fetus and the elder sister have carried c. 2427delC (p.T809fs) and c.1886A>T (p.E629V) compound heterozygous variants of the EPG5 gene, which were respectively inherited from their mother and father. Neither variant was reported previously. According to ACMG guidelines, the c.2427delC variant was predicted as pathogenic, while the c.1886A>T variant was of uncertain significance. PolyPhen-2 and PROVEAN software indicated that c.1886A>T variant was probably damaging.@*CONCLUSION@#The c.2427delC and c.1886A>T variants of the EPG5 gene probably underlie the pathogenesis of the Vici syndrome in this family. Above finding has enriched the variational spectrum of EPG5 gene and provided a basis for genetic counseling and prenatal diagnosis for the family.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Catarata
/
Proteínas de Transporte Vesicular
/
Agenesia del Cuerpo Calloso
/
Proteínas Relacionadas con la Autofagia
/
Secuenciación del Exoma
/
Mutación
Tipo de estudio:
Guía de Práctica Clínica
/
Estudio pronóstico
Límite:
Anciano
/
Femenino
/
Humanos
/
Embarazo
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2022
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS