Publications by authors named "M D Roĭfman"
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
Pathogenic variants in NOTCH1 are associated with non-syndromic congenital heart disease (CHD) and Adams-Oliver syndrome (AOS). The clinical presentation of individuals with damaging NOTCH1 variants is characterized by variable expressivity and incomplete penetrance; however, data on systematic phenotypic characterization are limited. We report the genotype and phenotype of a cohort of 33 individuals (20 females, 13 males; median age 23.
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- Autosomal recessive ROR2-Robinow syndrome is linked to mutations in the ROR2 gene, leading to various physical abnormalities.
- A fetal ultrasound at 24 weeks revealed significant traits such as enlarged head, facial deformities, and skeletal issues in the patient.
- Genetic testing identified two pathogenic variants in the ROR2 gene, one inherited from the mother and another that likely occurred de novo, both of which contribute to the observed symptoms and physical findings at autopsy.
Objectives: The objective of this study was to gather Ontario clinicians' and public members' views on the design of a pre-conception patient education program.
Methods: In this mixed-methods study, online surveys comprised of rank order, multiple choice, and short answer questions were completed by clinicians and public members. Semi-structured focus groups consisting of 2-6 participants each were then held via videoconference.