Publications by authors named "A Guet"
Article Synopsis
- The study aimed to compare imaging and genetic findings in fetuses with corpus callosum abnormalities identified through prenatal exome sequencing (pES) between 2018 and 2020.
- A total of 113 fetuses were included, revealing pathogenic/likely pathogenic (P/LP) genetic variants in certain types of abnormalities, with significant findings in cases with associated cerebellar issues.
- The results indicated that P/LP variants were more common in non-isolated conditions and certain types of callosal dysgenesis, but no variants were found for isolated short CC, interhemispheric cysts, or pericallosal lipoma.
The vast majority of human genes encode multiple isoforms through alternative splicing, and the temporal and spatial regulation of those isoforms is critical for organismal development and function. The spliceosome, which regulates and executes splicing reactions, is primarily composed of small nuclear ribonucleoproteins (snRNPs) that consist of small nuclear RNAs (snRNAs) and protein subunits. snRNA gene transcription is initiated by the snRNA-activating protein complex (SNAPc).
View Article and Find Full Text PDFIn the human genome, about 750 genes contain one intron excised by the minor spliceosome. This spliceosome comprises its own set of snRNAs, among which U4atac. Its noncoding gene, , has been found mutated in Taybi-Linder (TALS/microcephalic osteodysplastic primordial dwarfism type 1), Roifman (RFMN), and Lowry-Wood (LWS) syndromes.
View Article and Find Full Text PDFA prenatal and postnatal follow-up of a child with Pai syndrome, especially till toddler age, allows a better understanding of the evolution of this syndrome. This offers insight on possible outcomes especially in what concerns the neurodevelopment.
View Article and Find Full Text PDFArticle Synopsis
- The BCAP31 gene at Xq28 encodes BAP31, which is involved in transporting proteins from the endoplasmic reticulum to the Golgi apparatus, with mutations linked to severe neurological disorders in males.
- Pathogenic variants result in a spectrum of symptoms, including profound intellectual disability, dystonia, deafness, and a syndrome called deafness, dystonia, and cerebral hypomyelination (DDCH), with females often being asymptomatic or only mildly affected.
- The study identifies 17 new families with BCAP31-related conditions, confirming that males with loss-of-function variants have a more severe phenotype, while females can exhibit a range of neurological symptoms, and suggests additional complications like elevated liver enzymes in male