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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...
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

Exome sequencing identifies a novel pathogenic variant in RAB3GAP1 causing Warburg Micro syndrome in a Pakistani family
CONCLUSIONS: Identification of this extremely rare variant extends the mutations spectrum of Micro syndrome. Screening more families, especially in underrepresented populations, will help unveil the mutation spectrum underlying this syndrome.PMID:37186309 | DOI:10.1002/jdn.10264 (Source: International Journal of Developmental Neuroscience)
Source: International Journal of Developmental Neuroscience - May 15, 2023 Category: Neuroscience Authors: Wahid Ullah Muhammad Ilyas Muhammad Tariq Maria Imdad Ikram Ullah Stephanie Efthymiou Muhammad Faheem Muhammad Abbas SYNAPS Study Group Muhammad Aamir Muhammad Nouman Henry Houlden Source Type: research

Exome sequencing identifies a novel pathogenic variant in RAB3GAP1 causing Warburg Micro syndrome in a Pakistani family
CONCLUSIONS: Identification of this extremely rare variant extends the mutations spectrum of Micro syndrome. Screening more families, especially in underrepresented populations, will help unveil the mutation spectrum underlying this syndrome.PMID:37186309 | DOI:10.1002/jdn.10264 (Source: International Journal of Developmental Neuroscience)
Source: International Journal of Developmental Neuroscience - May 15, 2023 Category: Neuroscience Authors: Wahid Ullah Muhammad Ilyas Muhammad Tariq Maria Imdad Ikram Ullah Stephanie Efthymiou Muhammad Faheem Muhammad Abbas SYNAPS Study Group Muhammad Aamir Muhammad Nouman Henry Houlden Source Type: research

Exome sequencing identifies a novel pathogenic variant in RAB3GAP1 causing Warburg Micro syndrome in a Pakistani family
CONCLUSIONS: Identification of this extremely rare variant extends the mutations spectrum of Micro syndrome. Screening more families, especially in underrepresented populations, will help unveil the mutation spectrum underlying this syndrome.PMID:37186309 | DOI:10.1002/jdn.10264 (Source: International Journal of Developmental Neuroscience)
Source: International Journal of Developmental Neuroscience - May 15, 2023 Category: Neuroscience Authors: Wahid Ullah Muhammad Ilyas Muhammad Tariq Maria Imdad Ikram Ullah Stephanie Efthymiou Muhammad Faheem Muhammad Abbas SYNAPS Study Group Muhammad Aamir Muhammad Nouman Henry Houlden Source Type: research

Exome sequencing identifies a novel pathogenic variant in RAB3GAP1 causing Warburg Micro syndrome in a Pakistani family
CONCLUSIONS: Identification of this extremely rare variant extends the mutations spectrum of Micro syndrome. Screening more families, especially in underrepresented populations, will help unveil the mutation spectrum underlying this syndrome.PMID:37186309 | DOI:10.1002/jdn.10264 (Source: International Journal of Developmental Neuroscience)
Source: International Journal of Developmental Neuroscience - May 15, 2023 Category: Neuroscience Authors: Wahid Ullah Muhammad Ilyas Muhammad Tariq Maria Imdad Ikram Ullah Stephanie Efthymiou Muhammad Faheem Muhammad Abbas SYNAPS Study Group Muhammad Aamir Muhammad Nouman Henry Houlden Source Type: research