A new case with the recurrent PURA p.(Phe233del) pathogenic variant: Expansion of the phenotype and review of the literature

Int J Dev Neurosci. 2023 May 19. doi: 10.1002/jdn.10266. Online ahead of print.ABSTRACTIn the process of neuronal development, the protein Purα (encoded by the PURA gene) is essential for neuronal proliferation, dendritic maturation, and the transportation of mRNA to translation sites. Mutations in the PURA gene may alter normal brain development and impair neuronal function, contributing to developmental delays and seizures. Recently, PURA syndrome is described as developmental encephalopathy with or without epilepsy, neonatal hypotonia, feeding difficulties, global developmental delay, and severe intellectual disability. In our study, we aimed to perform a genetic analysis by whole exome sequencing (WES) in a Tunisian patient presented with developmental and epileptic encephalopathy to provide a molecular explanation for the developed phenotype. We collected, also, clinical data of all PURA p.(Phe233del) patients reported yet and compared the clinical features with those of our patient. Results revealed the presence of the known PURA c.697_699del, p.(Phe233del) variant. Our studied case shares some clinical features including hypotonia, feeding difficulties, severe developmental delay, epilepsy, and language delay (nonverbal) but presents a radiological finding undescribed before. Our finding defines and expands the phenotypic and genotypic spectrum of the PURA syndrome supporting the absence of reliable genotype-phenotype correlations and the existence of a highly variabl...

Source: International Journal of Developmental Neuroscience - May 19, 2023 Category: Neuroscience Authors: Abir Ben Issa Ikhlas Ben Ayed Olfa Jallouli Amal Souissi Wafa Bouchaalla Mariem Ben Said Salma Mallouli Saber Masmoudi Chahnez Charfi Triki Hassen Hadj Kacem Fatma Kammoun Source Type: research