10 research outputs found
Missense variants identified in screen of 90 patients with SFEC (NM_015443.3).
<p>Missense variants identified in screen of 90 patients with SFEC (NM_015443.3).</p
Rare missense variants identified in replication cohort comprising 208-patient CECTS/ACECTS cohort (NM_015443.3).
<p>Rare missense variants identified in replication cohort comprising 208-patient CECTS/ACECTS cohort (NM_015443.3).</p
Co-occurrence of two recessive diseases under consanguinity.
<p>Probabilities are calculated for a model of two recessive diseases, each being caused by a single fully penetrant locus with identical susceptibility allele frequency, q, and both loci being unlinked. <b>(A)</b> Log<sub>10</sub> value of the probability to observe two recessive diseases in a single family by chance as a function of consanguinity level <i>F</i><sub><i>I</i></sub> in the general population and the same risk allele frequency, q, at both unlinked loci. <b>(B)</b> Log<sub>10</sub> value of the increase in the co-occurrence probability due to consanguinity compared to the non-consanguineous case (<i>F</i><sub><i>I</i></sub> = 0). Probabilities and allele frequencies are depicted using their decadic logarithm (log<sub>10</sub>). For example, when assuming values of <i>F</i><sub><i>I</i></sub> = 0.01 and q = 0.001 = 10<sup>−3</sup>, the two diseases will jointly occur in a single family with a probability of roughly 10<sup>−10</sup>, which equals approximately an 10<sup>2</sup> = 100-fold increase in probability in comparison to a non-consanguineous population.</p
Pedigree and mutation segregation.
<p>All patients exhibiting symptoms of HHR are homozygous for the mutation <i>SLC34A3</i> p.G196R (c.586G>A NM_080877.2), whereas all patients expressing symptoms of CM are homozygous for the mutation <i>SEPN1</i> p.G239R (c.715G>A NM_206926.1). Therefore, patients II-2 and II-7 present features of both diseases. Arrows indicate index patients. Abbreviations: HHR = Hereditary hypophosphatemic rickets; CM = congenital myopathy.</p
<i>RBFOX1and RBFOX3</i> variants and phenotype of index-patients.
<p>Survey on <i>RBFOX1</i> and <i>RBFOX3</i> variants in patients. Seizure type and comorbidity overview of variant carrier. Abbreviations: RE = rolandic epilepsy; CTS = centrotemporal spikes; ESES = epileptic encephalopathy with status epilepticus during sleep.</p
Summary of previous studies referenced at the HGMD specific for each identified variant.
<p>Summary of previous studies referenced at the HGMD specific for each identified variant.</p
Functional prediction and conservation scores of the 8 HMGD Variations.
<p>Functional prediction and conservation scores of the 8 HMGD Variations.</p
HGMD <i>SCN1A</i> mutation frequencies in patients and controls.
<p>HGMD <i>SCN1A</i> mutation frequencies in patients and controls.</p
Gene-disrupting microdeletions found only in patients with genetic generalised epilepsy.
<p>GGE, genetic generalised epilepsy; CTR: population control; Chr: chromosome, start/end: genomic start and end point of the deleted segment, hg19; ^<i>P</i>-value: type-1 error rate for a χ2-test with df = 1; OR, 95%-CI, odds ratio with 95% confidence interval. Disease phenotype: ASD: autism spectrum disorder, ADHD: attention deficit hyperactivity disorder, AN: anorexia nervosa, AUT: autism, BPD: bipolar disorder, EE: epileptic encephalopathy, EPI: epilepsy, ID: intellectual disability, MCP: microcephaly, SCZ: schizophrenia; GGE syndromes: CAE: childhood absence epilepsy, JAE: juvenile absence epilepsy, JME: juvenile myoclonic epilepsy, EGMA: epilepsy with generalised tonic-clonic seizures alone predominantly on awakening, EGTCS: epilepsy with generalised tonic-clonic seizures alone, gsw: generalised spike and wave discharges on the electroencephalogram, number/: age-at-onset of afebrile generalised seizures. # previously published in [<a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1005226#pgen.1005226.ref026" target="_blank">26</a>] and * [<a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1005226#pgen.1005226.ref027" target="_blank">27</a>]. Bold gene symbols indicate genes previously implicated in epileptogenesis.</p><p>Gene-disrupting microdeletions found only in patients with genetic generalised epilepsy.</p
Functional gene enrichment and network analysis.
<p>Significant gene-set enrichments on 329 genes deleted in GGE patients revealed an enrichment of GRIN2B interacting proteins, genes of the MGI abnormal emotion/affect behaviour annotation and of the GO cognition annotation. Segmental clusters of genes belonging to a gene family were removed. Positional clustering of genes physically linked on a microdeletion is indicated by a slash between the gene symbols.</p><p>Functional gene enrichment and network analysis.</p