Clinical features of patients with Yin Yang 1 deficiency causing Gabriele‐de Vries syndrome: A new case and review of the literature
Hossein Jafari Khamirani, Sina Zoghi, Zahra Mehdipour Namdar, Neda Kamal, Mehdi Dianatpour, Kaoru Tabei, Sanaz Mohammadi, Fatemeh Dehghanian, Zahra Farbod, Seyed Alireza Dastgheib
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.