scholarly journals Biallelic Variants in LAMB1 Causing Hydranencephaly: A Severe Phenotype of a Rare Malformative Encephalopathy

2021 ◽  
Vol 11 (01) ◽  
pp. e26-e28
Author(s):  
Kuntal Sen ◽  
Shagun Kaur ◽  
David W. Stockton ◽  
Mary Nyhuis ◽  
Jacquelyn Roberson
Keyword(s):  
Case Report ◽  
Genetic Testing ◽  
Genome Sequencing ◽  
Whole Genome ◽  
Severe Phenotype ◽  
Genetic Etiology ◽  
Dysmorphic Features ◽  
Phenotypic Spectrum ◽  
History Of ◽  
Cobblestone Lissencephaly

Abstract Case Report A 32-year-old female with a history of three prior pregnancy losses presented for genetic testing following an ultrasonography diagnosis of fetal hydranencephaly. Baby was born via C-section and was noted to have a head circumference of 48 cm, in addition to ocular and cardiac anomalies and dysmorphic features. Whole genome sequencing revealed a homozygous variant in LAMB1 gene. Discussion The pathobiogenesis of hydranencephaly is incompletely understood and is attributed to vascular, infectious, or genetic etiology. Herein we present LAMB1 as a monogenic cause of fetal hydranencephaly which was incompatible with life. Previously, LAMB1-associated phenotype consisted of cobblestone lissencephaly and hydrocephalus, developmental delay, and seizures. Our proband expands the phenotypic spectrum of this malformative encephalopathy.

scholarly journals R1352Q CACNA1A Variant in a Patient with Sporadic Hemiplegic Migraine, Ataxia, Seizures and Cerebral Oedema: A Case Report

2021 ◽  
pp. 123-130
Author(s):  
Anker Stubberud ◽  
Emer O’Connor ◽  
Erling Tronvik ◽  
Henry Houlden ◽  
Manjit Matharu
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Genetic Testing ◽  
Head Trauma ◽  
Cerebral Oedema ◽  
De Novo ◽  
Minor Head Trauma ◽  
Hemiplegic Migraine ◽  
Wide Range ◽  
History Of

Mutations in the <i>CACNA1A</i> gene show a wide range of neurological phenotypes including hemiplegic migraine, ataxia, mental retardation and epilepsy. In some cases, hemiplegic migraine attacks can be triggered by minor head trauma and culminate in encephalopathy and cerebral oedema. A 37-year-old male without a family history of complex migraine experienced hemiplegic migraine attacks from childhood. The attacks were usually triggered by minor head trauma, and on several occasions complicated with encephalopathy and cerebral oedema. Genetic testing of the proband and unaffected parents revealed a de novo heterozygous nucleotide missense mutation in exon 25 of the <i>CACNA1A</i> gene (c.4055G&#x3e;A, p.R1352Q). The R1352Q <i>CACNA1A</i> variant shares the phenotype with other described <i>CACNA1A</i> mutations and highlights the interesting association of trauma as a precipitant for hemiplegic migraine. Subjects with early-onset sporadic hemiplegic migraine triggered by minor head injury or associated with seizures, ataxia or episodes of encephalopathy should be screened for mutations. These patients should also be advised to avoid activities that may result in head trauma, and anticonvulsants should be considered as prophylactic migraine therapy.

scholarly journals Continuing the sequence? Towards an economic evaluation of whole genome sequencing for the diagnosis of rare diseases in Scotland

2021 ◽  
Author(s):  
Michael Abbott ◽  
Lynda McKenzie ◽  
Blanca Viridiana Guizar Moran ◽  
Sebastian Heidenreich ◽  
Rodolfo Hernández ◽  
...  
Keyword(s):  
Economic Evaluation ◽  
Genetic Testing ◽  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Rare Diseases ◽  
Genomic Medicine ◽  
Future Research ◽  
Clinical Genetics ◽  
Whole Genome ◽  
Peace Of Mind

AbstractNovel developments in genomic medicine may reduce the length of the diagnostic odyssey for patients with rare diseases. Health providers must thus decide whether to offer genome sequencing for the diagnosis of rare conditions in a routine clinical setting. We estimated the costs of singleton standard genetic testing and trio-based whole genome sequencing (WGS), in the context of the Scottish Genomes Partnership (SGP) study. We also explored what users value about genomic sequencing. Insights from the costing and value assessments will inform a subsequent economic evaluation of genomic medicine in Scotland. An average cost of £1,841 per singleton was estimated for the standard genetic testing pathway, with significant variability between phenotypes. WGS cost £6625 per family trio, but this estimate reflects the use of WGS during the SGP project and large cost savings may be realised if sequencing was scaled up. Patients and families valued (i) the chance of receiving a diagnosis (and the peace of mind and closure that brings); (ii) the information provided by WGS (including implications for family planning and secondary findings); and (iii) contributions to future research. Our costings will be updated to address limitations of the current study for incorporation in budget impact modelling and cost-effectiveness analysis (cost per diagnostic yield). Our insights into the benefits of WGS will guide the development of a discrete choice experiment valuation study. This will inform a user-perspective cost–benefit analysis of genome-wide sequencing, accounting for the broader non-health outcomes. Taken together, our research will inform the long-term strategic development of NHS Scotland clinical genetics testing services, and will be of benefit to others seeking to undertake similar evaluations in different contexts.

scholarly journals Case Report: Hyper IgM Syndrome Identified by Whole Genome Sequencing in a Young Syrian Man Presenting With Atypical, Severe and Recurrent Mucosal Leishmaniasis

2020 ◽  
Vol 11 ◽  
Author(s):  
Camilla Heldbjerg Drabe ◽  
Rasmus L. Marvig ◽  
Line Borgwardt ◽  
Jens D. Lundgren ◽  
Hanne Vibeke Hansen Maquart ◽  
...  
Keyword(s):  
Case Report ◽  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Whole Genome ◽  
Hyper Igm Syndrome ◽  
Mucosal Leishmaniasis ◽  
Hyper Igm

Whole-genome sequencing of human remains to enable genealogy DNA database searches – A case report

2020 ◽  
Vol 46 ◽  
pp. 102233 ◽  
Author(s):  
Andreas Tillmar ◽  
Peter Sjölund ◽  
Bo Lundqvist ◽  
Therese Klippmark ◽  
Cajsa Älgenäs ◽  
...  
Keyword(s):  
Case Report ◽  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Human Remains ◽  
Whole Genome ◽  
Dna Database

Siblings with Infantile Neuroaxonal Dystrophy

2020 ◽  
Author(s):  
Pulkit Agarwal ◽  
Jyotindra Narayan Goswami
Keyword(s):  
Case Report ◽  
Genetic Testing ◽  
Febrile Illness ◽  
Neuroaxonal Dystrophy ◽  
Infantile Neuroaxonal Dystrophy ◽  
Motor Delay ◽  
Developmental Regression ◽  
Female Sibling ◽  
History Of

AbstractA 2 years 3 months male toddler with motor delay and his female sibling with history of marked global developmental regression following an intercurrent febrile illness were both noted to have phospholipase A2G6 (PLA2G6) mutation, confirming the diagnosis of infantile neuroaxonal dystrophy (INAD). This case report attempts to familiarize readers with the pleomorphic presentation of INAD and the role of early clinical identification, examination, and prompt genetic testing in establishing a diagnosis.

scholarly journals Species-wide whole genome sequencing reveals historical global spread and recent local persistence in Shigella flexneri

eLife ◽  
2015 ◽  
Vol 4 ◽  
Author(s):  
Thomas R Connor ◽  
Clare R Barker ◽  
Kate S Baker ◽  
François-Xavier Weill ◽  
Kaisar Ali Talukder ◽  
...  
Keyword(s):  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Low Income ◽  
Shigella Flexneri ◽  
Virulence Gene ◽  
Low Income Countries ◽  
Whole Genome ◽  
Phylogenetic Groups ◽  
Gene Acquisition ◽  
History Of

Shigella flexneri is the most common cause of bacterial dysentery in low-income countries. Despite this, S. flexneri remains largely unexplored from a genomic standpoint and is still described using a vocabulary based on serotyping reactions developed over half-a-century ago. Here we combine whole genome sequencing with geographical and temporal data to examine the natural history of the species. Our analysis subdivides S. flexneri into seven phylogenetic groups (PGs); each containing two-or-more serotypes and characterised by distinct virulence gene complement and geographic range. Within the S. flexneri PGs we identify geographically restricted sub-lineages that appear to have persistently colonised regions for many decades to over 100 years. Although we found abundant evidence of antimicrobial resistance (AMR) determinant acquisition, our dataset shows no evidence of subsequent intercontinental spread of antimicrobial resistant strains. The pattern of colonisation and AMR gene acquisition suggest that S. flexneri has a distinct life-cycle involving local persistence.

scholarly journals Evolutionary history of Tibetans inferred from whole-genome sequencing

PLoS Genetics ◽  
2017 ◽  
Vol 13 (4) ◽  
pp. e1006675 ◽  
Author(s):  
Hao Hu ◽  
Nayia Petousi ◽  
Gustavo Glusman ◽  
Yao Yu ◽  
Ryan Bohlender ◽  
...  
Keyword(s):  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Evolutionary History ◽  
Whole Genome ◽  
History Of

scholarly journals The Most Recent Common Ancestor of Modern Humans was Born in Eurasia

2020 ◽  
Author(s):  
vicente cabrera
Keyword(s):  
Human Evolution ◽  
Genome Sequencing ◽  
Common Ancestor ◽  
Recent Common Ancestor ◽  
Whole Genome ◽  
African Origin ◽  
Modern Humans ◽  
Most Recent Common Ancestor ◽  
History Of ◽  
New Vision

Ancient DNA has given a new vision to the recent history of human evolution. However, by always relying on the information provided by whole genome sequencing, some relevant relationships between modern humans and its archaic relatives have been misinterpreted by hybridization and recombination causes. In contrast, the congruent phylogeny, obtained from non-recombinant uniparental markers, indicates that humans and Neanderthals are sister subspecies, and that the most recent common ancestor of modern humans was not of African origin but Eurasian.

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