Publications by authors named "R C M Hennekam"
Transducin β-like 1 X-linked receptor 1 (mouse Tbl1xr1) or TBL1X/Y related 1 (human TBL1XR1), part of the NCoR/SMRT corepressor complex, is involved in nuclear receptor signaling. Variants in TBL1XR1 cause a variety of neurodevelopmental disorders including Pierpont syndrome caused by the p.Tyr446Cys variant.
View Article and Find Full Text PDFBlepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype.
Am J Med Genet C Semin Med Genet
December 2024
Blepharophimosis with intellectual disability (BIS) is a recently recognized disorder distinct from Nicolaides-Baraister syndrome that presents with distinct facial features of blepharophimosis, developmental delay, and intellectual disability. BIS is caused by pathogenic variants in SMARCA2, that encodes the catalytic subunit of the superfamily II helicase group of the BRG1 and BRM-associated factors (BAF) forming the BAF complex, a chromatin remodeling complex involved in transcriptional regulation. Individuals bearing variants within the bipartite nuclear localization (BNL) signal domain of ADNP present with the neurodevelopmental disorder known as Helsmoortel-Van Der Aa Syndrome (HVDAS).
View Article and Find Full Text PDFArticle Synopsis
- Mutations in the Nuclear factor I/X (NFIX) gene are linked to two skeletal disorders, Marshall-Smith syndrome (MSS) and Malan syndrome (MAL), affecting gene expression in nervous tissue.
- Researchers analyzed fibroblast cell lines from MSS patients and controls, discovering that certain frameshift mutations produced truncated NFIX proteins while not significantly impacting other gene expressions.
- Further studies involving RNA sequencing revealed 191 misregulated transcripts and 815 proteins in affected cells, identifying specific genes like cellular retinoic acid binding protein 2 and vascular cell adhesion molecule 1 as potential targets for drug development.
Article Synopsis
- - Rubinstein-Taybi syndrome (RTS) is a genetic condition characterized by intellectual disability, unique facial features, limb abnormalities, and unusual growth patterns, caused by mutations in the CBP and p300 genes.
- - A diverse range of clinical and diagnostic practices for RTS exists worldwide, highlighted by discussions among international experts and support groups.
- - This report presents consensus recommendations for clinical diagnostic criteria, molecular investigations, and long-term management of RTS, emphasizing the need for ongoing evaluation to improve patient care.