Identification of a likely pathogenic variant of YY1 in a patient with developmental delay
Journal of Genetic Medicine
; : 60-63, 2021.
Article
in English
| WPRIM (Western Pacific)
| ID: wpr-899327
Responsible library:
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.
Full text:
Available
Database:
WPRIM (Western Pacific)
Type of study:
Diagnostic study
Language:
English
Journal:
Journal of Genetic Medicine
Year:
2021
Document type:
Article