Publications by authors named "Constance S Motter"
Am J Hum Genet
August 2024
Article Synopsis
- KMT2C and KMT2D are important enzymes that modify genes, with KMT2C haploinsufficiency recently linked to Kleefstra syndrome 2, a neurodevelopmental disorder (NDD) with unknown clinical details.
- A study involving 98 individuals found that most pathogenic variants in KMT2C span nearly all its exons, making variant interpretation difficult; the study also established a KMT2C DNA methylation signature for better classification of the disorder.
- Key features of KMT2C-related NDD include developmental delays, intellectual disabilities, and distinct facial characteristics, setting it apart from similar conditions like Kleefstra and Kabuki syndromes, indicating the need for its renaming and
Mol Psychiatry
February 2023
Article Synopsis
- Recent research highlights the role of missense and truncating variants in the CLCN4 gene, affecting chloride/proton exchange and leading to neurocognitive issues in both genders.
- A comprehensive database was created from 90 families, identifying 41 unique and 18 recurrent CLCN4 variants, with detailed clinical data collected from 43 families.
- Functional studies in Xenopus oocytes revealed that 25% of the variants displayed loss-of-function characteristics, while others led to gain-of-function issues, indicating the complexities of assessing genetic pathogenicity and suggesting a need for better patient care and further research.
