Publications by authors named "D N Mowat"
Article Synopsis
- ARID1A and ARID1B duplications are linked to Coffin-Siris syndrome, but ARID1B duplications have not been previously associated with a specific clinical phenotype until now.
- A study analyzed 16 cases of ARID1A and 13 cases of ARID1B duplications, revealing that ARID1A duplications resulted in more severe symptoms, including intellectual disabilities and growth delays, while both groups displayed similar features.
- The research identified unique DNA methylation patterns in ARID1A duplication patients, which differ from those with loss-of-function variants, suggesting the presence of a distinct clinical phenotype for both ARID1A and ARID1B duplications, indicating a new type of
Article Synopsis
- Tuberous sclerosis complex (TSC) is a condition that affects multiple systems in the body, and individuals with no identified mutations tend to have milder symptoms compared to those with confirmed genetic causes.
- * A study analyzed an Australian group with TSC who had no mutations identified (NMI) and used advanced DNA sequencing techniques to understand their phenotypes better.
- * The findings revealed that NMI individuals exhibit similar traits to those with certain known variants, achieving a 72% diagnostic success rate by identifying previously missed mosaic variants through comprehensive testing methods.
Early onset medullary thyroid carcinoma, later pheochromocytomas, and nonspecific extra-endocrine features (hypermobility and persistent constipation) are part of the clinical phenotype of Multiple Endocrine Neoplasia type 2B (MEN2B). A de novo pathogenic M918T variant in the rearranged during transfection proto-oncogene is usually identified. Affected children are often seen by multiple clinicians over a long period before consideration of a diagnosis of MEN2B, with metastatic medullary thyroid carcinoma often the precipitator.
View Article and Find Full Text PDFPurpose: Genome sequencing (GS)-specific diagnostic rates in prospective tightly ascertained exome sequencing (ES)-negative intellectual disability (ID) cohorts have not been reported extensively.
Methods: ES, GS, epigenetic signatures, and long-read sequencing diagnoses were assessed in 74 trios with at least moderate ID.
Results: The ES diagnostic yield was 42 of 74 (57%).
Background: Current carrier screening methods do not identify a proportion of carriers that may have children affected by spinal muscular atrophy (SMA). Additional genetic data is essential to inform accurate risk assessment and genetic counselling of SMA carriers. This study aims to quantify the various genotypes among parents of children with SMA.
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