Publications by authors named "C F Boerkoel"
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are imprinting disorders caused by genetic or epigenetic aberrations of 15q11.2-q13. Their clinical testing is often multitiered; diagnostic testing begins with methylation-specific multiplex ligation-dependent probe amplification or methylation-sensitive PCR and then proceeds to molecular subtyping to determine the mechanism and recurrence risk.
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- X-linked intellectual disability (XLID) is a genetic condition affecting primarily males, leading to cognitive and physical impairments and associated with genetic defects on the X chromosome.
- Researchers identified specific genetic variants in the SRPK3 gene linked to XLID in nine patients and developed a zebrafish model to study SRPK3's function.
- The study found that mutations in SRPK3 are tied to common symptoms seen in XLID, including intellectual disability and abnormal eye movement, emphasizing its critical role in neurodevelopmental disorders.
Article Synopsis
- * The study focuses on 48 de novo missense variants in GRIN1, GRIN2A, and GRIN2B that affect the M3 transmembrane helix, identified in children with conditions like epilepsy and developmental delays.
- * Most of these variants lead to a gain-of-function effect, promoting NMDAR channel activity, reinforcing the importance of the M3 region in receptor function, and providing insights into how certain drugs may affect these variant receptors.
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 PDFObjectives: To investigate the etiology of cerebellar ataxia in an adult male patient.
Methods: We performed standard neurologic assessment and genome sequencing of a 62-year-old man with rapidly progressive balance and gait abnormalities.
Results: The propositus exhibited cognitive dysfunction, mild appendicular bradykinesia, prominent appendicular ataxia, dysarthria, and hypomimia with minimal dysautonomic symptoms.