Craniosynostosis (CRS) is premature closure of cranial sutures, which is caused by either a gene mutation or environmental factors or both. Herein we found a gene mutation causing midline non-syndromic craniosynostosis in a 15-month-old boy. Conventional chromosome study revealed a complex paracentric inversion involving 2q14.3 and 2q34, and multicolor banding refined breakpoints to 2q14 and […]
Latest articles
Prenatal genomic microarray and sequencing in Canadian medical practice: towards consensus
A brief conference report documents a gathering, sponsored by the University of Toronto’s McLaughlin Centre, of representatives of the Canadian medical genetics community. They were invited to consider issues concerning new genomic technologies in prenatal clinical practice, as a precursor to practice guidelines and recommendations for policy makers. Invited guests provided international experience and insight. […]
Streamlining review of research involving humans: Canadian models
Research ethics and data access review are two important milestones that rest on the path from clinical innovation to clinical care. Research ethics review ensures the protection of all research participants, while the data access review facilitates collaboration and data sharing among researchers worldwide. Both reviews, however, can pose significant practical challenges when studies involve […]
Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type
Mesomelic dysplasia Savarirayan type is a rare inheritable skeletal malformation with the main feature being severe shortness of the lower legs. We investigated the DNA of four distinct patients with this condition and found a small deletion of four genes in all three of them. The deletion is located on the short arm of chromosome […]
Contribution of the low-frequency, loss-of-function p.R270H mutation in FFAR4 (GPR120) to increased fasting plasma glucose levels
Mice deficient for the lipid sensor Gpr120 develop obesity and both impaired fasting glucose and glucose intolerance under a high-fat diet. In humans, a loss-of-function mutation in /GPR120/ was shown to markedly contribute to obesity. Here, the authors investigate the effect of the same mutation in type 2 diabetes and glucose-related traits. They identified a […]
Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder
Auditory neuropathy spectrum disorder (ANSD) is a type of hearing loss in which transmission of auditory signals from the inner ear to the brain stem is distorted, giving rise to speech perception difficulties beyond that expected for the observed degree of hearing loss. Although its prevalence is high – ANSD has an incidence of 13% […]
A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome
Silver Russell Syndrome (SRS) includes pre and postnatal growth retardation, severe feeding difficulties, protruding forehead, relative macrocephaly at birth and body asymmetry. A simple clinical definition of SRS is important to establish its prevalence, propose clinical guidelines and common clinical trials for this group of patients and allow research to progress for patients with no […]
MET variant and human hearing loss
Hearing loss is a common phenotype. We mapped DFNB97, a new recessively inherited deafness locus, to chromosome 7q31.2. The DFNB97 phenotype is segregating in a consanguineous family with 9 affected individuals. Whole-exome sequencing (WES) identified a missense mutation in MET (Mesenchymal Epithelial Transition factor) which is the receptor for HGF (hepatocyte growth factor). The p.F841V variant […]
A germline mutation in PBRM1 predisposes to renal cell carcinoma
Many cases of familial renal cell carcinoma (RCC) are unexplained by mutations in known predisposing genes or shared environmental factors. We have shown that PBRM1, a tumor supressor gene with frequent somatic mutations in clear cell RCC, is also a RCC susceptibility gene. Indeed, four members from the same family, all with a history of […]
Prevalence of MLH1 constitutional epimutations as a cause of Lynch syndrome in unselected versus selected consecutive series of patients with colorectal cancer
Lynch syndrome is a hereditary condition which predispose to colorectal cancer and other tumors. A particular cause of this syndrome is the MLH1 constitutional methylation (epimutation). Universal tumor testing is recommended as the best strategy to identify Lynch syndrome patients. This screening renders a considerable number of cases with MLH1 methylation in tumors raising the […]