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 […]
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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 […]
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 […]
The UCL Low-Density Lipoprotein Receptor Gene Variant Database: Pathogenicity Update
Familial hypercholesterolemia (FH) is a common genetic disorder frequently caused by low-density lipoprotein receptor (LDLR) gene variants. Patients with FH have high levels of LDL-cholesterol leading to cardiovascular disease including premature heart attacks. We report an update of the UCL LDLR variant database which is used widely by clinicians and researchers as a catalogue of […]
The cerebellum and embodied semantics: Evidence from a case of genetic ataxia due to STUB1 mutations
Damage to movement-related brain networks distinctively impairs processing of action verbs (words denoting bodily motion). Can genetically-based deterioration of relevant regions involve similar deficits? To address this question, we assessed lexical processing in a unique patient with cerebellar ataxia due to mutations in the STUB1 gene. By combining structural and functional MRI with genetic and […]
AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis
Several authors have previously described a syndrome consisting of Alport Syndrome, intellectual disability, midface hypoplasia and elliptocytosis due to a large deletion involving the X chromosome. Previously published cases all had deletions of the X chromosome involving between 6 and 11 genes. We describe two maternal half-brothers who have very similar extra-renal features including midface […]
ACBD5 deficiency causes a defect in peroxisomal very long-chain fatty acid metabolism
A girl suffering from neurological symptoms and vision impairment showed an accumulation of very-long-chain fatty acids (VLCFAs). VLCFA are normally degraded in peroxisomes. In this paper we show that the VLCFA accumulation in the patient is due to a defect of the peroxisomal protein ACBD5. The patient had a homozygous mutation, resulting in the complete […]
A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy
Early myoclonic encephalopathy (EME) is a refractory epilepsy syndrome afflicting newborns that causes severe mental and developmental retardation. EME is often considered a complication of congenital metabolic diseases. In this study, abnormal GABAA receptors were shown to cause EME. The GABAA receptor is an ion channel, which plays a cardinal role in the inhibitory neuronal […]