Clinical features of patients with Yin Yang 1 deficiency causing Gabriele‐de Vries syndrome: A new case and review of the literature

Abstract

Background: Gabriele‐de Vries syndrome is a rare autosomal dominant genetic disease caused by de novo pathogenic variants in YY1. In this study, we report a 10‐year‐old boy with a de novo novel pathogenic variant in YY1, the first Iranian patient with Gabriele‐de Vries Syndrome. Methods: The novel de novo pathogenic variant detected in this study (NM_003403:c.690delA, p.Glu231Ilefs*25) was identified by whole‐exome sequencing and confirmed by Sanger sequencing. Results: The proband presented with delayed motor and speech development, ataxia, abnormal gait, autistic behavior, brain atrophy, and severe learning disability. Finally, we provide a case‐based review of the clinical features associated with Gabriele‐de Vries Syndrome. Thus far, merely 13 Gabriele‐de Vries Syndrome patients have been reported in the literature. Conclusion: The investigations for a suspected case of Gabriele‐de Vries Syndrome must involve molecular diagnosis of the disease and its underlying genetic defect because the clinical investigations are generally variable and nonspecific.

First Reported Case of Gabriele-de Vries Syndrome with Spinal Dysraphism

“…Facial dysmorphism was presented in our proband, and according to the review article by Khamirani et al, facial dysmorphism was presented in all described GADEVS patients [ 12 , 13 , 14 ]. No defects of other organ systems have been verified in our proband.…”

Clinical Features of Okur-Chung Neurodevelopmental Syndrome: Case Report and Literature Review

“…There are similarities between Okur-Chung syndrome and Kleefstra syndrome, Coffin-Siris syndrome, Rubinstein-Taybi syndrome, Gabriele-de Vries syndrome, epileptic encephalopathy 15, and a lot of other disorders [Akahira-Azuma et al, 2018;Khamirani et al, 2021Khamirani et al, , 2022. All of the mentioned disorders present with a wide spectrum of symptoms including developmental delay, intellectual disability, and distinctive facial appearance.…”

Clinical analysis of Gabriele‐de Vries caused by YY1 mutations and literature review

“…In addition, the YY1 protein can participate in neuronal differentiation to promote nervous system development (Dos Santos et al, 2022) and promote the formation of peripheral myelin (Zorzi et al, 2021). In conclusion, the YY1 protein, as a transcription regulator universally expressed in mammals, plays a role in regulatory pathways and developmental stages of multiple cell types (Khamirani et al, 2022).…”

“…Analyzing the clinical symptoms of 29 patients with Gabriele de Vries syndrome caused by YY1 gene mutation (Balakrishnan & Ranganath, 2021;Carminho-Rodrigues et al, 2020;Dos Santos et al, 2022;Khamirani et al, 2022;Koruga et al, 2023;Morales-Rosado et al, 2018;Tan et al, 2021), we discovered that craniofacial deformities were common in all patients. The most common feature is a broad forehead.…”