SHOX encodes a transcription factor involved in cell-cycle and growth regulation. Here, we report the association between microduplications at the SHOX locus and autism spectrum disorders (ASD) and related neurodevelopmental conditions (NDD). The study was triggered by observations in a discovery series of 90 ASD cases, who underwent clinical genetic testing by array-comparative genomic hybridisation. […]
Latest articles
Functional and genetic epidemiological characterisation of the FFAR4 (GPR120) p.R270H variant in the Danish population
The 7TM receptor for long chain fatty acids FFAR4 (GPR120) currently attracts great attention as a therapeutic target to treat metabolic diseases. A low-frequency missense variant (p.R270H, rs116454156) in FFAR4 has previously been reported to associate with obesity in European populations and to impair signaling of the receptor. Here we further examine the functional consequences […]
Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia
Acromicric dysplasia and geleophysic dysplasia are both forms of acromelic dysplasia. Several causative genes have been identified for the acromelic dysplasias, all of which affect TGF-β signalling and/or interactions with fibrillin. Here, we have used massive parallel sequencing to identify a dominant mutation in latent TGF-β binding protein-3 (LTBP3) in a family with acromicric dysplasia, […]
Naturally occurring BRCA2 alternate mRNA splicing events in clinically relevant samples
Genetic testing of BRCA1 and BRCA2 genes in cancer patients frequently reveals gene variations with unknown clinical effects. Some of these variations might affect mRNA splicing, an important step in gene expression. Aberrant splicing is typically determined by looking for novel mRNA molecules. We wanted to know if these molecules could also occur at random. […]
Germline RRAS2 Mutations are not associated with Noonan Syndrome
Mutations in a variety of Ras-MAPK pathway genes are detected in 70-80% of patients with Noonan Syndrome (NS) and related disorders, collectively referred to as RASopathies. Certain patients with RASopathies are predisposed to developing juvenile myelomonocytic leukemia (JMML), a myeloproliferative disorder of early childhood. We recently identified somatic mutations in RRAS2 in JMML and hypothesized […]
Meta-analysis of 49 549 individuals imputed with the 1000 Genomes Project reveals an exonic damaging variant in ANGPTL4 determining fasting TG levels
So far, more than 170 loci have been associated with circulating lipid levels through genome-wide association studies. These associations are largely driven by common variants, their function is often not known, and many are likely to be markers for the causal variants. In this study we aimed to identify more new rare and low-frequency functional […]
Cluster-randomised non-inferiority trial comparing DVD-assisted and traditional genetic counselling in systematic population testing for BRCA1/2 mutations
Newer genetic counselling approaches are needed to test large populations for cancer gene alterations. We compared traditional face-to-face counselling with a DVD assisted approach. This randomised study was undertaken in the London Jewish population while testing for BRCA gene alterations. We found DVD assisted counselling was not inferior to traditional face-to-face counselling for increase in […]
AKAP2 identified as a novel gene mutated in a Chinese family with adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis (AIS) is a common spinal deformities found in adolescent populations, while Mendelian-inherited family cases are quite rare. An autosomal-dominant inherited AIS family has been investigated and one missense mutation harbored in AKAP2 gene was found. The AKAP2 gene is located in a previously reported linkage locus (IS4) on chromosome 9q31.2-q34.2, which could […]
Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain
Congenital Insensitivity to Pain (CIP) is a very rare condition. Affected people are entirely unable to feel pain. This is usually caused by faults in a handful of genes; genes that are normally involved in pain sensing. In 2015 a new pain gene was been identified called PRDM12. The features of people with PRDM12 […]
Circular RNAs: a new frontier in the study of human diseases
Circular RNAs (circRNAs) represent a recent research hotspot in the RNA field. Reports are linking heterogeneous circRNA groups and many different human disorders, especially cancer. In this review, we focused on the rapidly advancing field of circRNAs that are involved in human diseases. First, we discuss tools (for example, public databases) that scan genome spans […]