Publications by authors named "Cara N Inglese"
Article Synopsis
- * In a study of 20 individuals with harmful mutations in MORC2, symptoms included developmental delay, intellectual disability, and physical growth issues, alongside signs of neuropathy, though neuropathy was not the main problem.
- * The findings suggest that these genetic variants cause abnormal epigenetic silencing and expand the known disorders linked to MORC2, including specific brain imaging and eye exam abnormalities resembling Leigh syndrome.
Increased application of next generation sequencing has led to the discovery of a multitude of new neurodevelopmental syndromes, contributing to an increased diagnostic rate for exome sequencing from 25% originally to 40% currently. Owing to the recent recognition of these syndromes, as well as the types of large-scale studies (with limited phenotype information) often making these discoveries, these disorders may be poorly characterized clinically. As a result there is very limited information and disorder-specific support available to patients and families.
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