Identification of a likely pathogenic variant of YY1 in a patient with developmental delay
Journal of Genetic Medicine
;
: 60-63, 2021.
Artigo
em Inglês
| WPRIM
| ID: wpr-899327
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:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Tipo de estudo:
Estudo diagnóstico
Idioma:
Inglês
Revista:
Journal of Genetic Medicine
Ano de publicação:
2021
Tipo de documento:
Artigo
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