Hypertrophic cardiomyopathy (HCM) is a significant cause of sudden unexpected cardiac death in any age group. Here we reported a Chinese family with maternally transmitted HCM and atrioventricular block (AVB). DNA sequencing analysis identified a novel homoplasmic 2336T>C mutation, which disturbs the 2336U-A2438 base pair in the stem-loop structure of mitochondrial 16S rRNA domain III. […]
Latest articles
The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a beta cell phenotype
The authors have discovered that a specific mutation in the HNF4A gene causes Fanconi syndrome, where salt and protein loss by the kidneys leads to soft bones and short stature. People with this condition usually have to take tablets to replace the salts leaked by the kidneys, and the genes responsible haven’t been found until […]
Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and Catecholaminergic Polymorphic Ventricular Tachycardia
As genetic testing of inherited diseases becomes ever more widely used, distinguishing between true disease-causing mutations and innocuous rare genetic variants is a critical issue in clinical genetics. Our new analysis method transfers known clinical mutations between evolutionarily related proteins, or paralogues, allowing us to identify mutations that affect parts of the protein intolerant to […]
Autism traits in the RASopathies
This ‘pathway’ approach investigates the Ras/MAPK signaling role in autism traits. A large sample representing genetic disorders (RASopathies) caused by mutations activating this pathway was compared with sibling controls and autism spectrum disorder (ASD) subjects. Each RASopathy (Neurofibromatosis type 1, Noonan syndrome, Costello syndrome, and cardio-facio-cutaneous syndrome) is associated with autism traits, with distinct distributions. […]
Direct-to-consumer pharmacogenomic testing is associated with increased physician utilisation
The impact of direct-to-consumer (DTC) pharmacogenomic testing on consumer behavior has not been previously studied. A large sample of adults purchased a DTC pharmacogenomic test and completed baseline and follow-up health behavior assessments. The pharmacogenomic test included testing for drug effectiveness or risk of side effects for 12 medications. At follow-up the 481 individuals who […]
Breast and ovarian cancer risks in a large series of clinically ascertained families with a high proportion of BRCA1 and BRCA2 Dutch founder mutations
BRCA1 and BRCA2 mutation carriers have increased risks of breast and ovarian cancer. In this Dutch study the authors examined these risks and their variation. We found that the average risks of breast and ovarian cancer by age 70 were 45% and 31%, respectively, for BRCA1 and 27% and 6%, respectively, for BRCA2 mutation carriers. […]
Correlation between FMR1 expression and clinical phenotype in discordant dichorionic–diamniotic monozygotic twin sisters with the fragile x mutation
The clinical phenotypes of females with fragile X full mutations vary drastically. The authors describe a pair of discordant monozygotic female twins (dichorionic–diamniotic type) with full mutation and the degrees of their phenotypic discordance regarding physical, psychiatric and behavioural features were quantified in a series of neuropsychological test. This paper identified FMR1 expression in hair-root, […]
Colorectal cancer risk variants on 11q23 and 15q13 are associated with unexplained adenomatous polyposis
Polyps are the primary precursor lesions of colorectal cancer (CRC). Patients with large numbers of polyps (polyposis) are relatively rare and most of them can currently be explained by two strong predisposition genes (APC and MUTYH). However, the remaining 20-30% of polyposis patients remains genetically unexplained. The authors studied 252 genetically unexplained polyposis patients and […]
The spectrum of RB1 mutations identified in 403 retinoblastoma patients
The Retinoblastoma Genetic Screening Unit tests blood and tumour samples for mutations in the Retinoblastoma gene (RB1). RB1 mutations predispose for the development of retinoblastoma, a childhood eye cancer which can be inherited. Tumours form due to two RB1 mutations, either of which may be heritable. Knowing whether the retinoblastoma is heritable helps to inform […]
3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder
This article reports on the first clinical delineation of 3q28q27.3 interstitial deletions, by the description of 7 patients gathered through the Decipher database. Affected patients present with a recognisable dysmorphism and marfanoïd habitus, psychotic troubles and intellectual disability. The deleted region encompasses candidate genes, including SST for the neuropsychiatric findings; and AHSG, encoding a secreted […]