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

Affiliations
  • 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

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.

Keyword

YY1 transcription factor; Developmental disabilities; Facial dysmorphism
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