J Genet Med.  2021 Jun;18(1):60-63. 10.5734/JGM.2021.18.1.60.

Identification of a likely pathogenic variant of YY1 in a patient with developmental delay

  • 1Department of Pediatrics, Hanyang University Medical Center, Hanyang University College of Medicine, Seoul, Korea
  • 2Department of Pediatrics, Kangbuk Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea


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.


YY1 transcription factor; Developmental disabilities; Facial dysmorphism
Full Text Links
  • JGM
export Copy
  • Twitter
  • Facebook
Similar articles
Copyright © 2023 by Korean Association of Medical Journal Editors. All rights reserved.     E-mail: koreamed@kamje.or.kr