Long noncoding RNAs (lncRNAs), a class of DNA transcripts longer than 200 nucleotides with limited protein-coding potential, have been demonstradte to be crucial and pervasive cellular regulators in various physiological or pathological processes. Vision is a complex and vital perception that comprises 80% of the sensory information we receive. Based on current findings, our review […]
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Diagnostic value of exome and whole genome sequencing in craniosynostosis
Craniosynostosis (the premature fusion of the skull bones) is a common disorder affecting 1 in 2,250 children and so is often encountered by paediatricians and geneticists. Because of the many different genetic causes of this disease, standard diagnostic testing procedures can often miss the underlying genetic lesion. In our study we identified the genetic cause […]
Recessive progressive symmetric erythrokeratoderma results from a homozygous loss-of-function mutation of KRT83 and is allelic with dominant monilethrix
Progressive symmetric erythrokeratoderma (PSEK) is a genetic condition featured by the appearance of symmetrically distributed demarcated hyperkeratotic plaques, often with associated palmoplantar hyperkeratosis, with new plaques developed over time. Previously mutation in two genes LOR and GJB4 have been implicated with PSEK, while a locus for PSEK has been mapped to 21q11.2-q21.2. In this study […]
Genome-wide association study identifies variants in HORMAD2 associated with tonsillectomy
Tonsillectomy is one of the most common surgical procedures in children and young adults and may be recommended in patients who experience recurrent throat infections. Using Danish health register data, we screened the genomes of more than 3,000 tonsillectomy patients and 13,000 controls. Thereby, we identified variants in the gene HORMAD2 significantly associated with tonsillectomy. […]
A novel somatic mutation achieves partial rescue in a child with Hutchinson-Gilford progeria syndrome
Progeria is a fatal premature aging disease caused by mutations in the LMNA gene, leading to production of the toxic protein progerin. We describe a child with a mixed cell population (mosaicism) carrying two different progerin-producing mutations of the same nucleotide – one causing clinically severe Progeria and one milder Progeria. The child possessed intermediate […]
The importance of dynamic re-analysis in diagnostic whole exome sequencing
Exome sequencing is a method of investigating all of a person¹s genes at the same time to look for the mutation that is causing their illness. It is often used when targeted genetic testing has run into a dead end. However, half to three quarters of patients who have their exome sequenced will still not […]
Diagnostic value of exome and whole genome sequencing in craniosynostosis
Craniosynostosis (the premature fusion of the skull bones) is a common disorder affecting 1 in 2,250 children and so is often encountered by paediatricians and geneticists. Because of the many different genetic causes of this disease, standard diagnostic testing procedures can often miss the underlying genetic lesion. In our study we identified the genetic cause […]
Hypersuccinylacetonemia and normal liver function in maleylacetoacetate isomerase deficiency
Tyrosinemia is a genetic disease that causes liver failure, cirrhosis and liver cancer. Succinylacetone is a substance that is elevated in tyrosinemia. Using succinylacetone for newborn screening permits early treatment of tyrosinemia, which can prevent liver disease. Six babies were detected by screening but had normal liver function. Even without special treatment, each child has […]
Anxiety delivered Direct-to-Consumer: are we asking the right questions about the impacts of DTC genetic testing?
Contrarily to initial expectations about the psychological impact of Direct to Consumer genetic testing, people are substantially resilient to long-term consequences of results to genetic testing. Previous literature raised concerns on DTC focusing on anxiety levels it might cause. We claim that there are three substantial limits to be considered: non-clinical anxiety is not a […]
Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study
Fabry disease is a rare, inherited disorder due to deficiency of lysosomal α-galactosidase A leading to multisystem disease and early death. In the 18-month randomized segment of the global ATTRACT study, orally administered migalastat, a first-in-class pharmacological chaperone, was compared with intravenous enzyme replacement therapy. Migalastat and ERT had comparable effects on renal function. Migalastat […]