Publications by authors named "A Boogaerts"
Article Synopsis
- Dandy-Walker malformation and occipital cephalocele can occur together in a rare genetic condition called ADDWOC, inherited in an autosomal dominant manner.
- * A three-generation family showed different symptoms of these conditions but maintained normal psychomotor development and no neurological issues.
- * Genetic analysis identified a likely harmful mutation in the NID1 gene, which impacts a key amino acid important for the interaction between nidogen and laminin.*
Purpose: We aimed to investigate the molecular basis of a novel recognizable neurodevelopmental syndrome with scalp and enamel anomalies caused by truncating variants in the last exon of the gene FOSL2, encoding a subunit of the AP-1 complex.
Methods: Exome sequencing was used to identify genetic variants in all cases, recruited through Matchmaker exchange. Gene expression in blood was analyzed using reverse transcription polymerase chain reaction.
Article Synopsis
- - Esophageal atresia/tracheoesophageal fistula (EA/TEF) is a serious birth defect often linked with other abnormalities, but genetic testing only confirms a diagnosis in a small percentage of cases.
- - In a study involving 67 patients, only 11 (16%) received a definitive or probable genetic diagnosis, indicating that the reasons behind EA/TEF may be more complex and involve multiple genetic and environmental factors.
- - The research identified specific genetic variants related to certain genes (like TCF4 and FANCA) that may contribute to the EA/TEF conditions, providing new insights into its development.
Article Synopsis
- * Researchers analyzed clinical and genetic data from 36 individuals with CDH+ to identify genes that may influence diaphragm development and reveal new related health conditions.
- * They found potential harmful variants in genes (CREBBP, SMARCA4, UBA2, USP9X) that are expressed in developing mouse diaphragms, suggesting these genes contribute to diaphragm development and furthering our understanding of CDH.
Purpose: SRRM2 encodes the SRm300 protein, a splicing factor of the SR-related protein family characterized by its serine- and arginine-enriched domains. It promotes interactions between messenger RNA and the spliceosome catalytic machinery. This gene, predicted to be highly intolerant to loss of function (LoF) and very conserved through evolution, has not been previously reported in constitutive human disease.
View Article and Find Full Text PDF