Identification of a likely pathogenic variant of YY1 in a patient with developmental delay
- Author:
Soyoung BAE
1
;
Aram YANG
;
Ja-Hye AHN
;
Jinsup KIM
;
Hyun Kyung PARK
Author Information
- Publication Type:Case Report
- From:Journal of Genetic Medicine 2021;18(1):60-63
- CountryRepublic of Korea
- Language:English
- 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.
