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% […]
Latest articles
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 […]
Canadian Open Genetics Repository (COGR): a unified clinical genomics database as a community resource for standardising and sharing genetic interpretations
Genomic medicine is still an emerging field. Scientists working at different institutions have developed naming systems and checklists and specialized databases that differ significantly from one to another; their utility is compromised by the many differences between them. The result is that sharing such data across the biomedical community has been difficult if not impossible. […]
Loss-of-function de novo mutations play an important role in severe human neural tube defects
Neural tube defects (NTDs) are very common and severe birth malformations that are caused by failure of neural tube closure. They are caused by a combination of genetic and environmental factors that remain largely unknown. Anencephaly and spina bifida are severe NTDs that affect reproductive fitness but are still prevalent across generations, suggesting a role […]
Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects
Loss-of-function mutations of the FLNA gene cause X-linked periventricular nodular heterotopia (PNH) while gain-of-function mutations cause the Otopalatodigital (OPD) spectrum. These two conditions are known to be mutually exclusive phenotypes. We describe a family in which a woman and her three daughters exhibited a phenotype combining PNH, epilepsy and Melnick-Needles syndrome, a skeletal disorder assigned […]
A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in MYO18B
Klippel-Feil anomaly (KFA) is a rare disorder encompassing fusion of the cervical spine, as well as low posterior hair line and limited neck mobility. Here we describe a mutation in a novel gene, MYO18B, which results in KFA along with muscular weakness. This is an association that has never been reported before. High resolution microscopy […]
Bilateral vestibular schwannomas in older patients: NF2 or chance?
We have previously estimated that one in two million people will develop bilateral vestibular schwannomas by chance. We show for the first time molecular proof that a man who developed bilateral vestibular schwannomas aged 52 and 67 years of age had developed these by independent events in the NF2 gene with no evidence of a […]