X-linked ichthyosis (XLI) is a skin disorder caused by a genetic deletion carried by approximately 7 million individuals worldwide. Brcic and colleagues use the power of the UK Biobank (comprising ~0.5 million individuals recruited from the UK general population) to show that carriers of XLI-associated deletions are at increased risk of mood symptoms and mild […]
Latest articles
A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy
A large consanguineous family was studied after 5 babies died in infancy. The affected individuals present with weakness and poor muscle tone from birth, which progressed to respiratory failure causing death at an early age. Examination and ancillary tests showed a severe peripheral neuropathy, but not central nervous system abnormalities were observed. A homozygous novel […]
Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network
Accurate, consistent interpretation of the pathogenicity and associated risk for variants in cancer susceptibility genes is essential for effective management of patients and their families. With clinical and laboratory representation from each of the 25 molecular diagnostic laboratories in the UK and ROI, we have established CanVIG-UK (Cancer Variant Interpretation Group UK). Through our monthly […]
Colorectal cancer genetic variants are also associated with serrated polyposis syndrome susceptibility
Serrated polyposis syndrome (SPS) is a clinical entity characterized by large and multiple serrated polyps throughout the colon and increased risk for colorectal cancer (CRC). Serrated polyps are considered CRC precursor lesions. Despite recent results in CRC genome-wide studies, the germline predisposition of SPS remains largely unknown. This study is the first to evaluate the […]
Diverse types of genomic evidence converge on alcohol use disorder risk genes
Alcohol use disorder (AUD) is one of the most common forms of substance use disorders. Genome-wide association studies (GWAS) have identified a number of AUD-associated variants, including those in alcohol metabolism genes. It is important to understand where and how these genetic variants may modulate gene expression, making individuals more vulnerable to AUD. In this […]
Clinical and genetic features of somatic mosaicism in facioscapulohumeral dystrophy
Facioscapulohumeral dystrophy (FSHD), one of the most common adult muscular diseases, shows significant clinical heterogeneity that can be partially explained by somatic mosaicism. We here report our findings from the prospective, hospital-based, case-control, observational study of 35 mosaic FSHD patients recruited over 10 years. This largest-to-date mosaic FSHD cohort exhibited significant clinical heterogeneity and relatively […]
Bi-allelic variants in MAATS1 encoding CFAP91, a calmodulin- and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility
Multiple morphological abnormalities of the sperm flagella (MMAF) consistently lead to male infertility due to a reduced or absent sperm motility. Despite numerous genes described to be associated with MMAF, more than half of the cases analyzed remain unresolved, suggesting that many yet uncharacterized gene defects account for this phenotype. In this study, we identified […]
Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD
We report a new genetic disorder in 17 patients characterized by developmental delay especially in their speech, a variable degree of intellectual disability, decreased muscle tone, as well as neurobehavioral difficulties including autism and Attention Deficit and Hyperactivity Disorder. All patients have genetic variants in a gene called TNRC6B, which is important for the regulation […]
Severity of oro-dental anomalies in Loeys-Dietz syndrome segregates by gene mutation
Rare diseases that have multisystemic involvements often feature oral and dental manifestations that are overlooked even though they may significantly affect patients’ quality of life. In this study, we thoroughly characterized the oro-dental anomalies in Loeys-Dietz syndrome, a rare disorder affecting the cardiovascular system. The most frequent anomalies include abnormal palate, short mandible and tooth […]
Association between genetic polymorphisms and endometrial cancer risk: a systematic review
Single nucleotide polymorphisms (SNPs) are differences in single building blocks of DNA between individuals. Hundreds of SNPs have been shown to influence susceptibility to disease and response to treatment. In this paper, we systematically reviewed the literature to identify SNPs that contribute to endometrial cancer risk. We report 24 SNPs of highest significance, and no […]