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http://dx.doi.org/10.5734/JGM.2021.18.1.60

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)
Publication Information
Journal of Genetic Medicine / v.18, no.1, 2021 , pp. 60-63 More about this Journal
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
YY1 transcription factor; Developmental disabilities; Facial dysmorphism;
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