Identification of six novel variants in Waardenburg syndrome type II by next ‐generation sequencing

ConclusionResults showed that targeted next ‐generation sequencing (NGS) enabled us to detect disease‐causing mutations with high accuracy, stability, speed and throughput. Our study extends the pathogenic mutation spectrum ofMITF andSOX10.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research

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"Lost Your Superpower"? Graphic Medicine, Voicelessness, and Georgia Webber's Dumb. Perspect Biol Med. 2020;63(1):207-217 Authors: Venkatesan S, Dastidar DG Abstract Unlike deafness and disability, speech-related disorders-voluntary/involuntary voicelessness, mutism, and their imperatives-have largely remained undertheorized both as scholarship and praxis. Given the primacy and over-privileging of vision, a consideration of the nature of voice/voicelessness is critical and urgent. Framed in metaphysical, metaphorical, and existential terms, Georgia Webber's graphic memoir Dumb (2018), which ...
Source: Perspectives in Biology and Medicine - Category: Medical Ethics Authors: Tags: Perspect Biol Med Source Type: research
Abstract The development of CRISPR technology has catapulted the issue of germline editing to the forefront of a debate between the goals of medical advancement and promotion of human diversity. The US National Academy of Sciences and the National Academy of Medicine recommended in a joint report that germline editing should be tightly regulated and pursued only for "serious diseases." A follow-up statement from an international summit on human genome editing emphasized a more general point that "the risks [are] too great to permit clinical trials of germline editing at this time." Here we revi...
Source: Perspectives in Biology and Medicine - Category: Medical Ethics Authors: Tags: Perspect Biol Med Source Type: research
I just read an interesting BBC article about why there are significantly more vegan women than men, which is mostly summarized by this statement at the top: When women hold two incompatible beliefs, they’re more likely to change their behaviour to reconcile them. Men, by comparison, tend to dig themselves in. The article cites a variety of studies that delve into gender differences and how these connect with dietary decisions. Reading it had an odd effect on me, making my vegan side feel good and my male side feel primitive and stupid. While I do consider myself an ethical vegan today, this article reminded ...
Source: Steve Pavlina's Personal Development Blog - Category: Psychiatry & Psychology Authors: Tags: Health Lifestyle Values Source Type: blogs
Publication date: March 2020Source: Molecular Genetics and Metabolism Reports, Volume 22Author(s): Olga Azevedo, Miguel F. Gago, Gabriel Miltenberger-Miltenyi, Ana Raquel Robles, Maria Antónia Costa, Olga Pereira, Ana Teresa Vide, Gonçalo Castelo Branco, Sónia Simões, Maria José Guimarães, Ana Salgado, Nuno Sousa, Damião CunhaAbstractBackgroundThe common GLA gene mutation p.F113L causes late-onset phenotype of Fabry disease (FD) with predominant cardiac manifestations. A founder effect of FD due to this mutation was found in the Portuguese region of Guimarães. Our stu...
Source: Molecular Genetics and Metabolism Reports - Category: Genetics & Stem Cells Source Type: research
This study aimed to examine the knowledge, attitude, and practice (KAP) of child sexual abuse (CSA) prevention among parents of children with hearing loss. The study involved 127 pairs of parents with deaf and hard of hearing children from three special ed...
Source: SafetyLit - Category: International Medicine & Public Health Tags: Age: Adolescents Source Type: news
Publication date: Available online 13 February 2020Source: CellAuthor(s): Christoph Kirst, Sophie Skriabine, Alba Vieites-Prado, Thomas Topilko, Paul Bertin, Gaspard Gerschenfeld, Florine Verny, Piotr Topilko, Nicolas Michalski, Marc Tessier-Lavigne, Nicolas RenierSummaryThe cerebral vasculature is a dense network of arteries, capillaries, and veins. Quantifying variations of the vascular organization across individuals, brain regions, or disease models is challenging. We used immunolabeling and tissue clearing to image the vascular network of adult mouse brains and developed a pipeline to segment terabyte-sized multichann...
Source: Cell - Category: Cytology Source Type: research
This report illustrates that a spectrum of disorders with distinct clinical symptoms may result from mutations in different parts ofKCNJ10, a gene initially associated only with the EAST/SeSAME syndrome.
Source: Neurogenetics - Category: Genetics & Stem Cells Source Type: research
We report the case of a pregnant patient diagnosed with Cockayne Syndrome, submitted successfully to spinal anesthesia for a cesarean section due to cephalopelvic disproportion. In view of the difficult decision between inducing general anesthesia in a patient with a likely difficult airway, or neuraxial anesthesia in a patient with cardiovascular, respiratory and neurocognitive limitations, we suggest tailored management to reach the best results for the mother and newborn.ResumoA síndrome de Cockayne é doença multissistêmica autossômica recessiva devido à falha no reparo do DNA. Or...
Source: Brazilian Journal of Anesthesiology - Category: Anesthesiology Source Type: research
ConclusionOur results expanded the mutation spectrum and genotype ‒phenotype correlation of nonsyndromic hearing loss in Chinese Hans and also emphasized the importance of combining both next‐generation sequencing and detailed auditory evaluation to achieve a more accurate diagnosis for nonsyndromic hearing loss.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: CLINICAL REPORT Source Type: research
The Jeff mouse mutant carries a mutation in the F-box only 11 gene (Fbxo11) and heterozygous animals display conductive deafness due to the development of otitis media (OM). The Fbxo11 locus is also associated with chronic otitis media with effusion (COME) and recurrent OM in humans. The Jeff mutation affects the ability of FBXO11 to stabilize p53 that leads to perturbation in the TGF-beta/Smad2 signaling pathway important in immunity and inflammation. In the current study, we evaluated the effect of the Jeff mutation on the immune cell content using multicolor flow cytometry. In blood of Jeff heterozygotes, we observed a ...
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research
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