Prenatal cerebral imaging features of a new syndromic entity related to KIAA1109 pathogenic variants mimicking tubulinopathy

2019 ◽  
Vol 40 (2) ◽  
pp. 276-281
Author(s):  
Sara Cabet ◽  
Audrey Putoux ◽  
Annie Buenerd ◽  
Lucie Gueneau ◽  
Alexandre Reymond ◽  
...  
Keyword(s):  
Imaging Features ◽  
Cerebral Imaging ◽  
Pathogenic Variants

scholarly journals EP08.02: Cerebral imaging features of a new syndromic entity related to KIAA1109 loss-of-function variants

2018 ◽  
Vol 52 ◽  
pp. 222-222
Author(s):  
L. Guibaud ◽  
A. Putoux ◽  
S. Cabet ◽  
A. Buenerd ◽  
L. Gueneau ◽  
...  
Keyword(s):  
Imaging Features ◽  
Loss Of Function ◽  
Cerebral Imaging

scholarly journals Defining the phenotypical spectrum associated with variants in TUBB2A

2020 ◽  
Vol 58 (1) ◽  
pp. 33-40
Author(s):  
Stefanie Brock ◽  
Tim Vanderhasselt ◽  
Sietske Vermaning ◽  
Kathelijn Keymolen ◽  
Luc Régal ◽  
...  
Keyword(s):  
Amino Acids ◽  
Cerebral Cortex ◽  
Early Life ◽  
Cerebellar Atrophy ◽  
Imaging Features ◽  
Pathogenic Variants ◽  
Brain Malformations ◽  
Severe Motor ◽  
Normal Cortex

BackgroundVariants in genes belonging to the tubulin superfamily account for a heterogeneous spectrum of brain malformations referred to as tubulinopathies. Variants in TUBB2A have been reported in 10 patients with a broad spectrum of brain imaging features, ranging from a normal cortex to polymicrogyria, while one patient has been reported with progressive atrophy of the cerebellar vermis.MethodsIn order to further refine the phenotypical spectrum associated with TUBB2A, clinical and imaging features of 12 patients with pathogenic TUBB2A variants, recruited via the international network of the authors, were reviewed.ResultsWe report 12 patients with eight novel and one recurrent variants spread throughout the TUBB2A gene but encoding for amino acids clustering at the protein surface. Eleven patients (91.7%) developed seizures in early life. All patients suffered from intellectual disability, and 11 patients had severe motor developmental delay, with 4 patients (36.4 %) being non-ambulatory. The cerebral cortex was normal in five individuals and showed dysgyria of variable severity in seven patients. Associated brain malformations were less frequent in TUBB2A patients compared with other tubulinopathies. None of the patients had progressive cerebellar atrophy.ConclusionThe imaging phenotype associated with pathogenic variants in TUBB2A is highly variable, ranging from a normal cortex to extensive dysgyria with associated brain malformations. For recurrent variants, no clear genotype–phenotype correlations could be established, suggesting the role of additional modifiers.

scholarly journals PEX6: An Imaging Overlap Between Peroxisomal and Lysosomal Storage Diseases

2020 ◽  
Vol 2 (2) ◽  
pp. 28-32
Author(s):  
César Augusto Pinheiro Ferreira Alves ◽  
Luisa Norbert Simonsen ◽  
Jonathan Rodrigues ◽  
Isabella Peixoto de Barcelos ◽  
Clarissa Bueno ◽  
...  
Keyword(s):  
Zellweger Syndrome ◽  
Krabbe Disease ◽  
Chondrodysplasia Punctata ◽  
Imaging Features ◽  
Peroxisome Biogenesis ◽  
Lysosomal Storage ◽  
Rhizomelic Chondrodysplasia Punctata ◽  
Peroxisomal Disorders ◽  
Pathogenic Variants ◽  
Craniofacial Dysmorphism

Peroxisomal disorders are a group of expanding genetic diseases divided into two major categories: peroxisome biogenesis defects (Zellweger spectrum disorder), and single enzymatic defects. Disorders of Peroxisome Biogenesis occur when there are biallelic pathogenic variants in any of the 13 PEX genes, which code for the peroxins, proteins required for peroxisome biogenesis. This group of disorders includes two distinct phenotypes: Rhizomelic Chondrodysplasia Punctata Type-1 and Zellweger Spectrum Disorders (ZSD), of which Zellweger syndrome is the most severe, neonatal adrenoleukodystrophy is intermediate, and infantile Refsum is the mildest. The spectrum’s most frequent defects are observed in the proteins PEX1 and PEX6, and the most common clinical presentation is Zellweger spectrum, which is often associated with craniofacial dysmorphism with neurologic abnormalities. Typically, the neuroimaging pattern shows several malformative features, including a range of cortical gyral abnormalities such as microgyria and pachygyria, and impairment of the myelination. Nevertheless, we report two siblings with peroxisomal disorder, with unexpected leukodystrophy pattern of the brain mimicking lysosomal storage disease, with classical imaging features of Krabbe disease on brain magnetic resonance image. By whole exome sequencing, we identified two pathogenic variants in compound heterozygosity in PEX6: Chr6:42.933.455 C>T (c.2435G>A), and Chr6:42.935.188 C>T (c.1802G>A). Thus, a final diagnosis of peroxisome disorder was confirmed. The index cases highlight the importance of considering peroxisome disorders as a differential diagnosis for patients with imaging features that resemble Krabbe disease.

scholarly journals Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies

2019 ◽  
Vol 20 (19) ◽  
pp. 4854
Author(s):  
Elise Boulanger-Scemama ◽  
Saddek Mohand-Saïd ◽  
Said El Shamieh ◽  
Vanessa Démontant ◽  
Christel Condroyer ◽  
...  
Keyword(s):  
High Throughput Sequencing ◽  
Fundus Autofluorescence ◽  
Retinal Imaging ◽  
Next Generation Sequencing Data ◽  
Genetic Defects ◽  
Imaging Features ◽  
Sequencing Data ◽  
Statistical Correlations ◽  
Pathogenic Variants ◽  
Sd Oct

Phenotypes observed in a large cohort of patients with cone and cone-rod dystrophies (COD/CORDs) are described based on multimodal retinal imaging features in order to help in analyzing massive next-generation sequencing data. Structural abnormalities of 58 subjects with molecular diagnosis of COD/CORDs were analyzed through specific retinal imaging including spectral-domain optical coherence tomography (SD-OCT) and fundus autofluorescence (BAF/IRAF). Findings were analyzed with the underlying genetic defects. A ring of increased autofluorescence was mainly observed in patients with CRX and GUCY2D mutations (33% and 22% of cases respectively). “Speckled” autofluorescence was observed with mutations in three different genes (ABCA4 64%; C2Orf71 and PRPH2, 18% each). Peripapillary sparing was only found in association with mutations in ABCA4, although only present in 40% of such genotypes. Regarding SD-OCT, specific outer retinal abnormalities were more commonly observed in particular genotypes: focal retrofoveal interruption and GUCY2D mutations (50%), foveal sparing and CRX mutations (50%), and outer retinal atrophy associated with hyperreflective dots and ABCA4 mutations (69%). This study outlines the phenotypic heterogeneity of COD/CORDs hampering statistical correlations. A larger study correlating retinal imaging with genetic results is necessary to identify specific clinical features that may help in selecting pathogenic variants generated by high-throughput sequencing.

Refining the mutational spectrum and gene–phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study

2021 ◽  
pp. jmedgenet-2020-107497
Author(s):  
Sara Nuovo ◽  
Alessia Micalizzi ◽  
Romina Romaniello ◽  
Filippo Arrigoni ◽  
Monia Ginevrino ◽  
...  
Keyword(s):  
Phenotypic Variability ◽  
Genetic Diagnosis ◽  
Hierarchical Cluster ◽  
Unsupervised Hierarchical Cluster ◽  
Imaging Features ◽  
Causative Gene ◽  
Multiple Features ◽  
Multicentric Study ◽  
Pathogenic Variants ◽  
Neuroradiological Diagnosis

BackgroundPontocerebellar hypoplasias (PCH) comprise a group of genetically heterogeneous disorders characterised by concurrent hypoplasia of the pons and the cerebellum and variable clinical and imaging features. The current classification includes 13 subtypes, with ~20 known causative genes. Attempts have been made to delineate the phenotypic spectrum associated to specific PCH genes, yet clinical and neuroradiological features are not consistent across studies, making it difficult to define gene-specific outcomes.MethodsWe performed deep clinical and imaging phenotyping in 56 probands with a neuroradiological diagnosis of PCH, who underwent NGS-based panel sequencing of PCH genes and MLPA for CASK rearrangements. Next, we conducted a phenotype-based unsupervised hierarchical cluster analysis to investigate associations between genes and specific phenotypic clusters.ResultsA genetic diagnosis was obtained in 43 probands (77%). The most common causative gene was CASK, which accounted for nearly half cases (45%) and was mutated in females and occasionally in males. The European founder mutation p.Ala307Ser in TSEN54 and pathogenic variants in EXOSC3 accounted for 18% and 9% of cases, respectively. VLDLR, TOE1 and RARS2 were mutated in single patients. We were able to confirm only few previously reported associations, including jitteriness and clonus with TSEN54 and lower motor neuron signs with EXOSC3. When considering multiple features simultaneously, a clear association with a phenotypic cluster only emerged for EXOSC3.ConclusionCASK represents the major PCH causative gene in Italy. Phenotypic variability associated with the most common genetic causes of PCH is wider than previously thought, with marked overlap between CASK and TSEN54-associated disorders.

Imaging Features of Nontumorous Conditions Involving the Trachea and Main-stem Bronchi

2002 ◽  
Vol 47 (3) ◽  
pp. 269
Author(s):  
Kyung Nyeo Jeon ◽  
Duk Sik Kang ◽  
Kyung Soo Bae
Keyword(s):  
Main Stem ◽  
Imaging Features

PEMBELAJARAN SIMULASI PENCITRAAN CT DENGAN MENGGUNAKAN PRINSIP REKONSTRUKSI CITRA DALAM SOFTWARE MATLAB

2015 ◽  
Vol 8 (3) ◽  
pp. 161
Author(s):  
Samuel Gideon
Keyword(s):  
Image Reconstruction ◽  
Ct Imaging ◽  
The Body ◽  
Reconstruction Technique ◽  
Imaging Features ◽  
Back Projection ◽  
Cross Sectional ◽  
Low Contrast ◽  
Image Reconstruction Technique ◽  
Imaging Algorithms

This research was conducted as a learning alternatives for study of CT (computed tomograpghy) imaging using image reconstruction technique which are inversion matrix, back projection and filtered back projection. CT imaging can produce images of objects that do not overlap. Objects more easily distinguishable although given the relatively low contrast. The image is generated on CT imaging is the result of reconstruction of the original object. Matlab allows us to create and write imaging algorithms easily, easy to undersand and gives applied and exciting other imaging features. In this study, an example cross-sectional image recon-struction performed on the body of prostate tumors using. With these methods, medical prac-titioner (such as oncology clinician, radiographer and medical physicist) allows to simulate the reconstruction of CT images which almost resembles the actual CT visualization techniques.Keywords : computed tomography (CT), image reconstruction, Matlab

Imaging features of children with growth hormone deficiency

2019 ◽  
Author(s):  
Tahri Abir ◽  
Abdellaoui Wahiba ◽  
Rouf Siham ◽  
Latrech Hanane
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Hormone Deficiency ◽  
Imaging Features
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