Bardet-Biedl syndrome (BBS) presents a complex phenotype. We discovered that CEP19 gene is defective in a Pakistani family with many members having postaxial polydactyly plus variable other clinical features including rod-cone dystrophy, obesity, intellectual disability, renal malformation, developmental delay, dental anomalies, speech disorder and enlarged fatty liver. We also found different combinations of modifier alleles […]
Latest articles
New Bone Dysplasia with Cloudy Cornea and Intellectual Disability caused by homozygous PLCB3 variants
Ben-Salem, Robbins et al. reports a new form of syndromic bone dysplasia in two Emirati first cousins. This new syndrome includes profound limb shortening with spine and pelvis abnormalities, corneal clouding, and intellectual disability. Homozygosity mapping in the family localized the genetic cause to cytogenetic band 11q12.1-q13.1. Whole exome sequencing identified a homozygous variant, c.2632G>T, […]
Genome-wide association study identified copy number variants associated with sporadic colorectal cancer risk
Colorectal Cancer (CRC) is the third most frequent cancer worldwide and associated with high mortality. We identified a rare structural or copy number variant region (CNVR) encompassing a chromatin remodeler (CHD8) and two common CNVRs encompassing an anti-phagocytic molecule (CD47) and two members of the RAS superfamily of GTPases (RERG/ARHGDIB) respectively in the human genome […]
A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy
In our paper, we report the identification of a de novo mutation in ISCU in a young male presenting ptosis, severe muscle weakness, and marked exercise intolerance. The first mutation in ISCU was described almost 10 years in Swedish patients while the second mutation was found the following year. No additional mutation in ISCU has […]
GWAS on prolonged gestation (post-term birth): analysis of successive Finnish birth cohorts
Amongst 3 billion bases of DNA lurks some 10 million points of genetic variation, making us who we are as individuals. We identify genetic variants associated with being born later than expected. These variants are in non-coding regions of the DNA. The evidence indicates that they affect genes that are a long way away within […]
SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family
“Methylglutaconic aciduria, Deafness, Encephalopathy, Leigh-like” syndrome (MEGDEL syndrome) is a genetic disease caused by mutations in a gene named SERAC1, which is involved in the metabolism of specific lipids, so-called phosphatidylglycerols. MEGDEL syndrome typically presents with progressive deafness, motor symptoms (i. e. dystonia) and additional features (e. g. neonatal sepsis and liver failure) with onset […]
Hypothesis: lobe A (COG1–4)-CDG causes a more severe phenotype than lobe B (COG5–8)-CDG
Some cellular components may be more equal than others. In this study we used the frequency gap – underreporting of a certain phenomenon – to determine the relative importance of both A and B lobes for the functioning of a protein complex called “the COG complex”. Two observations suggest that the consequences of lobe A […]
CTCF deletion syndrome: clinical features and epigenetic delineation
CTCF has multiple function in epigenetics including X-chromosome inactivation, genomic imprinting and genome organization. Mutations in CTCF are known to cause intellectual disability, however mechanism underlying the disease remains unknown. In this study, we reported two patients with a deletion including CTCF and proposed CTCF deletion syndrome because they showed distinct clinical characteristics icluding intellectual […]
Genetic Severity Score predicts clinical phenotype in NF2
Individuals affected with Neurofibromatosis type 2 (NF2) typically develop multiple brain and spine tumours, and often lose hearing in young adulthood. The disease course can vary amongst patients and their severity is linked to genetic variations. The NF2 genetic severity score presented here, groups patients using genetic test results. The score separated patients according to […]
Fabry disease: characterisation of the plasma proteome pre- and post-enzyme replacement therapy
Fabry disease (FD) is characterized by the progressive accumulation of globotriaosylceramide (Gb3). Enzyme replacement therapy (ERT) clears this accumulation. We analyzed plasma proteome profiles before and after ERT to characterize its molecular pathology. After ERT, the levels of proteins involved in inflammation, oxidative and ischemic injury, or complement activation were reduced significantly. In particular, we found out that inactivated complement C3b (iC3b) was significantly […]