Familial Intestinal Gastric Cancer (FIGC) remains genetically unexplained and poorly characterized, preventing the design of testing criteria for genetic diagnosis. We analyzed family trees from FIGC families and compared their tumour and normal genetic profiles with those of sporadic stomach cancer patients. We found that FIGC families present 2 or more stomach cancers, but may […]
Latest articles
MicroRNA-4516-mediated regulation of MAPK10 relies on 3’UTR cis-acting variants and contributes to the altered risk of Hirschsprung disease
Hirschsprung disease (HSCR) is a life-threatening genetic disorder in which the enteric nervous system (ENS) is completely missing from the distal gut. However, the contribution of genetic factors to HSCR remains unclear. In this paper, we identify MAPK10 as a HSCR susceptibility gene, which is directly regulated by miR-4516, and interestingly, the regulatory mechanism is […]
Investigating the genetic susceptibility to exertional heat illness
Some people show an increased propensity to develop heat illness, rhabdomyolysis (muscle tissue breakdown) or both following heavy exercise suggesting a genetic contribution. Variants in a number of genes, including RYR1 are associated with rhabdomyolysis but the situation with exertional heat illness is less certain. We found potentially pathogenic (disease-related) variants in 20 genes in […]
Phenotype of genetically confirmed Silver-Russell syndrome beyond childhood
Silver Russell syndrome (SRS) is a rare disorder affecting growth and behaviour, caused by faults in the biological control of growth factors vital to early development. We studied the medical history of 33 older people with SRS. 60% had significantly reduced height, though 70% had received treatment; this suggests a need for improved intervention. In […]
Excess of singleton loss-of-function variants in Parkinson’s disease contributes to genetic risk
Parkinson’s disease (PD) is a complex neurodegenerative disorder. Several risk variants and genes were identified by genetic studies and predictive disease risk models were built based on associations with common variants. We showed that singleton loss-of-function variants contribute to the genetic architecture of PD and that disease risk prediction models combining singleton and common variants […]
CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects
Primary Microcephaly (PM) is a neurodevelopmental disorder characterized by a small brain size frequently associated with intellectual disability. CDK5RAP2 is a cyclin-dependent kinase regulatory subunit associated protein whose deficiency causes a rare recessive isolated PM called MCPH3. In this article, Nasser and colleagues report patients carrying new bi-allelic CDK5RAP2 mutations and found that all patients […]
ATR-16 syndrome: mechanisms linking monosomy to phenotype
Advances in DNA sequencing technology mean chromosomal deletions are increasingly found in healthy individuals and also in patients with a wide range of developmental abnormalities. Understanding the contribution of each deletion to the clinical picture is challenging. In this work, as an example of this common phenomenon, we analysed 41 patients with simple deletions of […]
Whole genome sequence-based haplotypes reveal a single origin of the 1393 bp HBB deletion
Germline mutations of HBB gene that reduces its expression give rise to b thalassemia, and nearly 300 of these have been described. Deletions causing b-thalassemia are very rare. We have identified three individuals with identical HBB deletions of 1,393 bp associated with relatively high levels of hemoglobin A2 and hemoglobin. Using information from whole genome […]
Impacts of genomics on the health and social costs of intellectual disability
The economic cost of caring for people with intellectual disability (ID) is extremely high for families, health systems and society. These costs have been significantly underestimated. We show that when all costs of care for a person with ID are considered, that they average US$172,000 per person per year, accumulating to millions of dollars over […]
Xq28 copy number gain causing moyamoya disease and a novel moyamoya syndrome
Moyamoya angiopathy is a rare cerebrovascular disorder. Its main clinical manifestations include ischemic and hemorrhagic stroke. A few genes and cytogenetic anomalies have been reported in a limited number of patients. However, the molecular causative anomaly is so far unknown in most moyamoya patients. In this study, we identified a novel association between an Xq28 […]