5 results match your criteria: "University of British Columbia and Children's Hospital of British Columbia[Affiliation]"
Naturally occurring splice variants dissect the functional domains of BHC80 and emphasize the need for RNA analysis.
Am J Med Genet A
June 2024
Provincial Medical Genetics Program, B.C. Women's Hospital, Vancouver, British Columbia, Canada.
Pathogenic PHF21A variation causes PHF21A-related neurodevelopmental disorders (NDDs). Although amorphic alleles, including haploinsufficiency, have been established as a disease mechanism, increasing evidence suggests that missense variants as well as frameshift variants extending the BHC80 carboxyl terminus also cause disease. Expanding on these, we report a proposita with intellectual disability and overgrowth and a novel de novo heterozygous PHF21A splice variant (NM_001352027.
View Article and Find Full Text PDFGeneration of tandem alternative splice acceptor sites and CLTC haploinsufficiency: A cause of CLTC-related disorder.
Am J Med Genet A
August 2023
The Rare Disease Discovery Hub, BC Children's Hospital Research Institute, University of British Columbia and Children's Hospital of British Columbia, Vancouver, British Columbia, Canada.
Tandem splice acceptors (NAGN AG) are a common mechanism of alternative splicing, but variants that are likely to generate or to disrupt tandem splice sites have rarely been reported as disease causing. We identify a pathogenic intron 23 CLTC variant (NM_004859.4:c.
View Article and Find Full Text PDFDo PACS1 variants impeding adaptor protein binding predispose to syndromic intellectual disability?
Am J Med Genet A
August 2023
Department of Medical Genetics and Provincial Medical Genetics Program, University of British Columbia and Women's Hospital of British Columbia, Vancouver, British Columbia, Canada.
Article Synopsis
- PACS1-neurodevelopmental disorder (PACS1-NDD) is linked to a specific genetic variation, Arg203, which causes a type of intellectual disability due to its effect on PACS1 protein's client protein interactions.
- Researchers hypothesize that other PACS1 variants that disrupt binding to adaptor proteins could also lead to similar intellectual disabilities.
- A novel PACS1 variant (Ser252Phe) was identified in a mother-daughter pair, which may impair binding to an adaptor protein (GGA3), suggesting it could contribute to PACS1-NDD-like symptoms and enhancing understanding of how PACS1 variations cause intellectual disabilities.
Can tandem alternative splicing and evasion of premature termination codon surveillance contribute to attenuated Peutz-Jeghers syndrome?
Am J Med Genet A
October 2022
Imagenetics, Sanford Health and Research Center and Sanford School of Medicine, University of South Dakota, Sioux Falls, South Dakota, USA.
Alternative use of short distance tandem sites such as NAGN AG are a common mechanism of alternative splicing; however, single nucleotide variants are rarely reported as likely to generate or to disrupt tandem splice sites. We identify a pathogenic intron 5 STK11 variant (NM_000455.4:c.
View Article and Find Full Text PDFAn infant with congenital respiratory insufficiency and diaphragmatic paralysis: A novel BICD2 phenotype?
Am J Med Genet A
March 2022
Department of Medical Genetics and Provincial Medical Genetics Program, University of British Columbia and Women's Hospital of British Columbia, Vancouver, British Columbia, Canada.
Monoallelic pathogenic variants in BICD2 are associated with autosomal dominant Spinal Muscular Atrophy Lower Extremity Predominant 2A and 2B (SMALED2A, SMALED2B). As part of the cellular vesicular transport, complex BICD2 facilitates the flow of constitutive secretory cargoes from the trans-Golgi network, and its dysfunction results in motor neuron loss. The reported phenotypes among patients with SMALED2A and SMALED2B range from a congenital onset disorder of respiratory insufficiency, arthrogryposis, and proximal or distal limb weakness to an adult-onset disorder of limb weakness and contractures.
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