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.
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