Identification of a likely pathogenic variant of YY1 in a patient with developmental delay
Journal of Genetic Medicine
; : 60-63, 2021.
Artículo
en Inglés
| WPRIM (Pacífico Occidental)
| ID: wpr-891623
Biblioteca responsable:
WPRO
ABSTRACT
Gabriel–de Vries syndrome, caused by the mutation of YY1, is a newly defined genetic syndrome characterized by developmental delay, facial dysmorphism, and intrauterine growth retardation. A 7-month-old girl presented developmental delay and subtle facial dysmorphism including facial asymmetry, micrognathia, and low-set ears. Whole exome sequencing identified a de novo heterozygous missense variant in the YY1 (c.1220A>G; p.His407Arg) gene. Here, we examined the clinical and genetic characteristics of an infant with a novel likely pathogenic variant of YY1. This case expands the phenotypic spectrum of Gabriel–de Vries syndrome.
Texto completo:
Disponible
Base de datos:
WPRIM (Pacífico Occidental)
Tipo de estudio:
Estudio diagnóstico
/
Estudio pronóstico
Idioma:
Inglés
Revista:
Journal of Genetic Medicine
Año:
2021
Tipo del documento:
Artículo