We previously reported that the human 16p11.2 BP4-BP5 deletion and its associated TBX6 dosage reduction caused congenital vertebral malformations (CVMs) in thoracic and lumber vertebrae. Here we reveal genetic contributions of the reciprocal 16p11.2 BP4-BP5 duplication to cervical CVMs. The spinal assessments in seven duplication carriers showed that four presented characteristics of cervical CVMs. We […]
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Gene editing prospects for treating inherited retinal diseases
Retinal diseases can result from genetic mutations or combined risk factors, all causing vision impairment progressing to blindness. To date, available therapeutic approaches result in inefficient and expensive treatments. The CRISPR-Cas9 system, an RNA-guided genome editing technology, may be applied to precisely correct or remove disease-related genetic mutations, or induce permanent inhibition of factors promoting […]
Genetic variability and potential effects on clinical trial outcomes: perspectives in Parkinson’s disease
All clinical trials for drugs aimed to stop diseases such as Parkinson’s disease and Alzheimer’s disease have failed, and currently there are no drugs that can stop or slow down these diseases. In parallel, we have gathered a lot of data on how genetics affect the risk for these diseases and their clinical progression. However, […]
Retesting of women who are negative for a BRCA1 and BRCA2 mutation using a 20-gene panel
Given the recent expansion of our clinical genetic testing program in Ontario beyond just BRCA1/2, to a panel of 20 genes, it is relevant to ask whether individuals who were tested for BRCA1/2 alone in the past, but were found to be negative, should be re-tested with the new panel today. In the last two […]
Cardiac valve involvement in ADAR-related type I interferonopathy
The contribution of inflammation to inherited neurological diseases is not well understood. One subgroup of neurological diseases is caused by abnormalities of chemicals known as Type I interferons. We report for the first time heart valve calcification in three children that occurred as a complication of Type I interferon-associated neurodisability caused by mutations in the […]
Psychosocial effects of whole-body MRI screening in adult high-risk pathogenic TP53 mutation carriers: a case-controlled study (SIGNIFY)
People who are born with a pathogenic (disease-causing) variant in the TP53 gene have a very high lifetime risk of developing cancer – almost 100% for women and 75% for men. The SIGNIFY study, which reported last year, found that whole body Magnetic Resonance Imaging (WB-MRI) in people known to carry a pathogenic variant in […]
NEK11 as a candidate high-penetrance melanoma susceptibility gene
Cutaneous melanoma is an aggressive type of cancer developing from pigment-producing cells of the skin. Clustering of melanoma in at least two first degree relatives indicates a genetic contribution to the disease. Our general aim was to provide insight into the genetic basis of familial melanoma. We report on the identification of a novel co-segregating […]
Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach
Cornelia de Lange syndrome (CdLS) is a rare disease characterized by facial dysmorphism, pre- and postnatal growth retardation, cognitive impairment, gastrointestinal malformations, congenital heart abnormalities and limb defects. CdLS results from nucleotide changes in genes belonging to the cohesin pathway, involved in many biological processes important for cell life. CdLS cells show several dysregulated pathways, […]
Homozygous mutations in REC114 cause female infertility characterised by multiple pronuclei formation and early embryonic arrest
Abnormal pronuclear formation during fertilization and subsequent early embryonic arrest result in female infertility. In recent years, a few genes have been identified that are involved in female infertility caused by abnormalities in oocyte development, fertilization, and embryonic development. However, the genetic factors responsible for multiple pronuclei formation during fertilization and early embryonic arrest remain […]
Intronic SMCHD1 variants in FSHD: testing the potential for CRISPR-Cas9 genome editing
Facioscapulohumeral muscular dystrophy (FSHD) type 2 is a hereditary muscle disease which can be caused by mutations in the SMCHD1 gene. While most SMCHD1 mutations are found in the DNA coding for the protein (exon), we here report FSHD-causing mutations in non-coding regions of the SMCHD1 gene (introns). This shows that these regions should be […]