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 […]
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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 […]
Impact of subsidies on cancer genetic testing uptake in Singapore
The high cost of cancer genetic testing is often cited as the main barrier to uptake. Our study exploring different subsidy schemes showed that a scheme based on clinical and financial needs increased access to testing for high-risk individuals. Identifying at-risk individuals for gene-enabled surveillance and management is shown to reduce total spending on cancer […]
Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene
In this research, we describe 5 patients with a specific condition that we are referring to as Chitayat syndrome as the first patient with this condition was described in 1993 by Prof David Chitayat. Almost 15 years later, Dr Meena Balasubramanian saw a 5-month old baby with what appeared to be the exact same features […]
Genotype–phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex alleles
It is more and more frequent the detection of CFTR mutations for which it lacks a clear and univocal interpretation. This is particularly true for complex alleles (i.e., more mutations on the same allele). We describe genotype-phenotype correlations in a large number of Cystic Fibrosis patients, carrying different CFTR complex alleles and suggest a poorly […]
A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia, and alacrima
Mutations in the TRAPPC11 gene have been linked to a diverse range of phenotypes including intellectual deficit, muscular dystrophy and movement disorders. Here we report on individuals from two unrelated Turkish families who presented with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima. Although several of these symptoms are in common with Triple A syndrome, […]
CEP78 is mutated in a distinct type of Usher syndrome
Usher syndrome is a genetic disorder featured by combined visual impairment and hearing loss. Currently, the genetic basis remains unknown in 20-30% of patients. In this article, we described the identification of CEP78 as a new gene that leads to a mild Usher syndrome featured by juvenile or adult-onset cone-rod dystrophy and sensorineural hearing loss […]