Genotype-phenotype correlation: Inheritance and variant-type infer pathogenicity in IQSEC2 gene.

We present male (N = 2) and female (N = 3) probands ascertained via diagnostic exome sequencing with distinct variant types in the IQSEC2 gene encompassing a spectrum of phenotypic severity with patient sex, variant type and inheritance hypothesized to drive disease penetrance and expressivity. All of these patients demonstrated epilepsy, global developmental delays, intellectual disability, and constipation. Our data support that de novo, truncating variants correlate with severe disease in both female and male patients harboring an IQSEC2 alteration. Missense variants in male and female patients may account for a milder disease overall, with more severe symptoms in males than females. We also present the first confirmed case of parental mosaicism, which has implications regarding counseling for recurrence risk. These data further delineate a genotype-phenotype correlation of IQSEC2 variation. PMID: 31415821 [PubMed - as supplied by publisher]
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Eur J Med Genet Source Type: research

Related Links:

Authors: Jackson A Abstract The United States' entry into the First World War prompted progressives to reform veterans' entitlements in the hopes of creating a system insulated from corruption and capable of rehabilitating disabled veterans into productive members of society. The replacement of pensions with medical care for wounded and disabled soldiers through the Reconstruction Hospital System was originally intended as a temporary measure but resulted in establishing the foundations of the modern veterans' health care system. Yet, these reforms would not have been possible without the support from the community...
Source: Journal of the Medical Library Association : JMLA - Category: Databases & Libraries Tags: J Med Libr Assoc Source Type: research
AbstractNeurocognitive difficulties are highly prevalent among people with schizophrenia and have been linked to increased inflammation, as well as dysfunction and disability. Poor neurocognitive functioning has also been documented in individuals at clinical high risk for psychosis (CHR) and a burgeoning literature point to alterations in inflammation markers in this population. However, there is limited information regarding the putative link between inflammation and neurocognition in CHR individuals, and the potential role of inflammation in the development of cognitive difficulties and psychosis. As previous reports in...
Source: European Archives of Psychiatry and Clinical Neuroscience - Category: Neuroscience Source Type: research
Hi guys, So I'm a new dental grad and here's some background about me: single (no dependents), have loans, in the North East, don't come from a dental background. I'm a little confused on what offers are ideal for me because I don't know how much it would cost me to pay health, malpractice, disability etc out of pocket if i were to join as an independent contractor. Offer 1: Private practice, $600/day, 4 days, independent contractor, aka no benefits, no time contract, 8 mile non compete... New Grad- Job decisions
Source: Student Doctor Network - Category: Universities & Medical Training Authors: Tags: Dental Residents and Practicing Dentists Source Type: forums
Authors: Husain AM Abstract [Box: see text]. PMID: 31608668 [PubMed - as supplied by publisher]
Source: Epilepsy Currents - Category: Neurology Tags: Epilepsy Curr Source Type: research
Publication date: Available online 14 October 2019Source: Sensing and Bio-Sensing ResearchAuthor(s): Farah Nabila Diauudin, Jahwarhar Izuan Abdul Rashid, Victor Feizal Knight, Wan Md Zin Wan Yunus, Keat Khim Ong, Noor Azilah Mohd Kasim, Norhana Abdul Halim, Siti Aminah Mohd NoorAbstractThis review encompasses a literature review of chemical warfare agents (CWAs) and the attendant advantages and limitations of existing techniques (i.e. gas chromatography, liquid chromatography and ion mobility spectrometry) used for the detection of CWAs in previous decades. CWAs include the following agent classes i.e. nerve agents, bliste...
Source: Sensing and Bio Sensing Research - Category: Research Source Type: research
ConclusionAs expected, the postoperative hip function is similar, but patients’ preference is not. The latter result might be true or possibly influenced by preoperative psychological factors and mental health. The DAA and the posterolateral or direct lateral approaches have shown to lead to a similar hip function, but a majority of patients subjectively prefer the DAA.Level of evidenceIII.
Source: Orthopaedics and Traumatology: Surgery and Research - Category: Orthopaedics Source Type: research
Albert Sanfeliu1, Karsten Hokamp2, Michael Gill1 and Daniela Tropea1,3*1Neuropsychiatric Genetics, Department of Psychiatry, School of Medicine, Trinity Translational Medicine Institute, St James Hospital, Dublin, Ireland2Department of Genetics, School of Genetics and Microbiology, Smurfit Institute of Genetics, Trinity College Dublin, Dublin, Ireland3Department of Psychiatry, School of Medicine, Trinity College Institute for Neuroscience, Trinity College Dublin, Dublin, IrelandRett syndrome is a rare neuropsychiatric disorder with a wide symptomatology including impaired communication and movement, cardio-respiratory abno...
Source: Frontiers in Psychiatry - Category: Psychiatry Source Type: research
Conclusions: Almost one-third of ASD patients in our sample had at least one fGID. The presence of fGID was associated with ID, sleep problems and with behavioral problems (as measured by the prescription of psychotropic drugs). This subsample of ASD patients with fGID deserves particular attention in future research projects, focusing on specific phenotypic characteristics and overlapping biological markers that may underlie both pathologies. Introduction Autism spectrum disorder (ASD) is a pervasive neurodevelopmental disorder characterized by impairments in social communication and restricted, repetitive patterns ...
Source: Frontiers in Psychiatry - Category: Psychiatry Source Type: research
Conclusions Our case series show that loss-of-function mutations in WAC cause a recognisable genetic syndrome characterised by a neurocognitive phenotype and facial dysmorphism. Our data highly suggest that WAC haploinsufficiency is responsible for most of the phenotypic features associated with deletions encompassing 10p11.23.
Source: Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Neurogastroenterology, Eye Diseases, Genetic screening / counselling, Epilepsy and seizures, Dermatology, Epidemiology Phenotypes Source Type: research
Conclusion Jodie was harmed beyond repair when a doctor decided to allow her to be injected with an untested 8-in-1 vaccine. She survived the shot, but sadly, has lived her life in severe pain because of what was done to her. She will live the rest of her life suffering brain damage, bowel problems, seizures, not being able to communicate easily, not being able to eat properly nor take care of herself. Many parents whose children greatly suffer and need constant care worry about their injured child’s future and what is best for them. Although the family is thankful and blessed that Jodie survived, they have deep conc...
Source: - Category: Allergy & Immunology Authors: Tags: Augustina Ursino Case Reports on Vaccine Injury Human Top Stories Brian Deer Dr. Andrew Wakefield Experimental Vaccines Jodie Marchant MMR vaccine William Marchant Source Type: blogs
More News: Autism | Constipation | Disability | Epilepsy | Genetics | Men