Journal of Genetic Medicine

Korean Society of Medical Genetics and Genomics (대한의학유전학회)
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Identification of a likely pathogenic variant of YY1 in a patient with developmental delay

  • Bae, Soyoung (Department of Pediatrics, Hanyang University Medical Center, Hanyang University College of Medicine) ;
  • Yang, Aram (Department of Pediatrics, Kangbuk Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Ahn, Ja-Hye (Department of Pediatrics, Hanyang University Medical Center, Hanyang University College of Medicine) ;
  • Kim, Jinsup (Department of Pediatrics, Hanyang University Medical Center, Hanyang University College of Medicine) ;
  • Park, Hyun Kyung (Department of Pediatrics, Hanyang University Medical Center, Hanyang University College of Medicine)
  • Received : 2021.06.01
  • Accepted : 2021.06.13
  • Published : 2021.06.30
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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.

Keywords

Acknowledgement

This work was supported by Hanyang Medicine-Engineering-Biology Center. The analysis of whole exome sequencing was supported by 3billion Inc. (Seoul, Korea).

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