Publications by authors named "Katrina M Haude"
Protein phosphatase 2A (PP2A) is a heterotrimeric protein serine/threonine phosphatase and is involved in a broad range of cellular processes. PPP2R5D is a regulatory B subunit of PP2A and plays an important role in regulating key neuronal and developmental regulation processes such as PI3K/AKT and glycogen synthase kinase 3 beta (GSK3β)-mediated cell growth, chromatin remodeling, and gene transcriptional regulation. Using whole-exome sequencing (WES), we identified four de novo variants in PPP2R5D in a total of seven unrelated individuals with intellectual disability (ID) and other shared clinical characteristics, including autism spectrum disorder, macrocephaly, hypotonia, seizures, and dysmorphic features.
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- Intellectual disability (ID) impacts 1%-3% of the population, primarily affecting males, but this study reveals 35 de novo mutations in the DDX3X gene linked to ID in females, accounting for 1%-3% of unexplained cases in women.
- While no de novo mutations were found in males, three families showed missense mutations in DDX3X, indicating an X-linked recessive inheritance pattern, where affected males had ID and carrier females were unaffected.
- The research explores the pathogenic mechanisms using zebrafish models, showing that DDX3X mutations cause loss-of-function effects on the Wnt pathway, with differences in disease effects between genders suggesting a complex interaction of DDX3X expression