Publications by authors named "Catherine Buchanan"
Article Synopsis
- Alternative polyadenylation (APA) produces different transcripts from a single gene by cleaving pre-mRNA at various poly(A) sites, primarily studied in the 3' untranslated region (3'UTR).
- The study highlights that insufficient CPSF6 leads to changes in protein levels and development issues by affecting APA across the transcript, not just in the 3'UTR.
- It was found that in humans and zebrafish, CPSF6 insufficiency alters poly(A) site usage, impacting neuronal genes by reducing their expression while enhancing expression of heart and skeletal function genes.
Gaucher disease is a rare lysosomal storage disorder caused by a deficiency in glucocerebrosidase. This enzyme deficiency leads to the accumulation of toxic metabolites in various organs. Multiple subtypes of this disease have been described; however, the perinatal-lethal form is extremely rare and challenging to diagnose.
View Article and Find Full Text PDFThe pre-mRNA-processing factor 8, encoded by PRPF8, is a scaffolding component of a spliceosome complex involved in the removal of introns from mRNA precursors. Previously, heterozygous pathogenic variants in PRPF8 have been associated with autosomal dominant retinitis pigmentosa. More recently, PRPF8 was suggested as a candidate gene for autism spectrum disorder due to the enrichment of sequence variants in this gene in individuals with neurodevelopmental disorders.
View Article and Find Full Text PDFBackground: Supernumerary sex chromosome aneuploidies (SCA) are common genetic conditions characterized by additional X or Y chromosome, affecting ~1/500 individuals, with the most frequent karyotypes of 47,XXY (Klinefelter syndrome), 47,XXX (Trisomy X), and 47,XYY (Jacob syndrome). Although there is considerable phenotypic variation among these diagnoses, these conditions are characterized by the presence of overlapping physical, medical, developmental, and psychological features. Our interdisciplinary clinic's experience anecdotally supports previous published findings of atopic conditions, feeding difficulties, and gastroesophageal reflux to be more prevalent in SCAs (Bardsley et al.
View Article and Find Full Text PDFPurpose: We describe a novel neurobehavioral phenotype of autism spectrum disorder (ASD), intellectual disability, and/or attention-deficit/hyperactivity disorder (ADHD) associated with de novo or inherited deleterious variants in members of the RFX family of genes. RFX genes are evolutionarily conserved transcription factors that act as master regulators of central nervous system development and ciliogenesis.
Methods: We assembled a cohort of 38 individuals (from 33 unrelated families) with de novo variants in RFX3, RFX4, and RFX7.
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome.
Genet Med
November 2020
Article Synopsis
- Nontruncating variants in the SMARCA2 gene are linked to Nicolaides-Baraitser syndrome (NCBRS), characterized by intellectual disability and congenital anomalies, but other disorders associated with SMARCA2 were unclear.
- Researchers found SMARCA2 variants in 20 individuals with syndromic neurodevelopmental disorders that did not fit the criteria for NCBRS and analyzed these variants functionally and through genetic testing.
- Results revealed a new syndrome called blepharophimosis intellectual disability syndrome (BIS), which shares some features with NCBRS but is distinct both phenotypically and at the molecular level, primarily due to the location of the SMARCA2 variants.
Background: Recent evidence suggests that physical decline and slower gait may be associated with early signs of dementia, but more information on healthy older adults is needed.
Methods: We determined associations between cognitive function, gait speed, and self-reported measures of physical function in 3035 healthy mobile participants of the Ginkgo Evaluation of Memory Study evaluated in 2000-2001. Gait speed was measured over a 15-foot course with participants walking at both their usual and rapid pace.