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Loss of syntaxin 3 causes variant microvillus inclusion disease.
It is concluded that loss of STX3 function causes variant MVID, and patient-derived organoid cultures and overexpression of truncated STx3 in Caco-2 cells recapitulated most characteristics of variant M VID.
Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability
The increased causal variant detection yield by WES and the relatively high costs of the entire traditional diagnostic trajectory suggest that early implementation of WES is a relevant and cost-efficient option in patient diagnostics.
Monocarboxylate transporter 1 deficiency and ketone utilization.
- P. V. van Hasselt, S. Ferdinandusse, G. van Haaften
- Biology, MedicineNew England Journal of Medicine
- 12 November 2014
Exome sequencing in a patient with recurrent, severe ketoacidosis and genetic analysis in 96 patients suspected of having ketolytic defects suggested that MCT1-mediated ketone-body transport is needed to maintain acid-base balance.
Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder
This study underscores the critical importance of fine-tuned presynaptic control in normal brain function and adds the neuronal Munc13 proteins and the synaptic vesicle priming process that they control to the known etiological mechanisms of psychiatric and neurological synaptopathies.
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
The authors identify missense variants in CHD3 that disturb its chromatin remodeling activities and cause a neurodevelopmental disorder with macrocephaly and speech and language impairment.
Joubert syndrome: genotyping a Northern European patient cohort
- H. Kroes, G. Monroe, G. van Haaften
- Biology, MedicineEuropean Journal of Human Genetics
- 1 February 2016
A targeted next-generation sequencing approach was used to genotype a cohort of 51 well-phenotyped Northern European JBS cases, providing insight into the relative importance of the different JBS genes in a Northern European population.
Whole-exome sequencing in intellectual disability; cost before and after a diagnosis
- T. Vrijenhoek, Eline M Middelburg, G. Frederix
- MedicineEuropean Journal of Human Genetics
- 29 June 2018
Application of WES results in a considerable reduction of healthcare costs, not just in current settings, but even more so when applied earlier in the diagnostic trajectory (genetics-first), and WES may replace less cost-effective traditional technologies without compromising the diagnostic yield.
Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity.
It is shown that de novo protein-truncating KIDINS220 variants cause a new syndrome, SINO, this is the first report of KID INS220 variants causing a human disease.
De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms.
De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum
The phenotypic characterization of 16 additional individuals with intellectual disability, motor delay and speech impairment and abnormal muscle tone are reported, expanding and further establishing the clinical and mutational spectrum of inactivating CTNNB1 mutations and thereby clinically delineate this new CTNN B1 haploinsufficiency syndrome.