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  1. Article ; Online: Are CUL3 variants an underreported cause of congenital heart disease?

    Di Francesco, Daniela / Swenerton, Anne / Li, Wenhui Laura / Dunham, Christopher / Hendson, Glenda / Boerkoel, Cornelius F

    American journal of medical genetics. Part A

    2023  Volume 191, Issue 12, Page(s) 2903–2907

    Abstract: Complex heart defects (CHD) are a common malformation associated with disruption of developmental pathways. The Cullin-RING ligases (CRLs) are multi-subunit E3 ubiquitin ligases in which Cullin 3 (CUL3) serves as a scaffolding subunit. Heterozygous CUL3 ... ...

    Abstract Complex heart defects (CHD) are a common malformation associated with disruption of developmental pathways. The Cullin-RING ligases (CRLs) are multi-subunit E3 ubiquitin ligases in which Cullin 3 (CUL3) serves as a scaffolding subunit. Heterozygous CUL3 variants have been associated with neurodevelopmental disorders and pseudohypoaldosteronism type IIE. We report a fetus with CHD and a de novo CUL3 variant (NM_003590.4:c.[1549_1552del];[=], p.(Ser517Profs*23)) and review CUL3 variants reported with CHD. We postulate that CUL3 variants predispose to CHD and hypothesize mechanisms of pathogenesis.
    MeSH term(s) Humans ; Cullin Proteins/genetics ; Cullin Proteins/metabolism ; Ubiquitin-Protein Ligases ; Heart Defects, Congenital/genetics
    Chemical Substances Cullin Proteins ; Ubiquitin-Protein Ligases (EC 2.3.2.27) ; CUL3 protein, human
    Language English
    Publishing date 2023-09-04
    Publishing country United States
    Document type Case Reports
    ZDB-ID 2108614-X
    ISSN 1552-4833 ; 0148-7299 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 0148-7299 ; 1552-4825
    DOI 10.1002/ajmg.a.63387
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  2. Article: Umbilical Cord Hemangioma with Significant Cord Edema.

    Zhang, Lisa / Delisle, Marie-France / Hendson, Glenda / Liauw, Jessica

    Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC

    2021  Volume 45, Issue 11, Page(s) 101785

    MeSH term(s) Humans ; Female ; Hemangioma/complications ; Hemangioma/diagnostic imaging ; Fetal Diseases ; Umbilical Cord ; Edema/etiology
    Language English
    Publishing date 2021-07-22
    Publishing country Netherlands
    Document type Editorial
    ZDB-ID 2171082-X
    ISSN 1701-2163
    ISSN 1701-2163
    DOI 10.1016/j.jogc.2021.06.012
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  3. Article ; Online: Lethal respiratory course and additional features expand the phenotypic spectrum of PIEZO2-related distal arthrogryposis type 5.

    Oliwa, Agata / Hendson, Glenda / Longman, Cheryl / Synnes, Anne / Seath, Kim / Barnicoat, Angela / Hall, Judith G / Patel, Millan S

    American journal of medical genetics. Part A

    2022  Volume 191, Issue 2, Page(s) 546–553

    Abstract: Distal arthrogryposes (DA) are a group of conditions presenting with multiple congenital contractures in the distal joints. The 10 types of DA are distinguished by different extra-articular manifestations. Heterozygous gain-of-function variants in PIEZO2 ...

    Abstract Distal arthrogryposes (DA) are a group of conditions presenting with multiple congenital contractures in the distal joints. The 10 types of DA are distinguished by different extra-articular manifestations. Heterozygous gain-of-function variants in PIEZO2 are known to cause a spectrum of DA conditions including DA type 3, DA type 5, and possibly Marden Walker syndrome, which are usually distinguished by the presence of cleft palate (DA3), ptosis and restriction in eye movements (DA5), and specific facial abnormalities and central nervous system involvement, respectively. We report on a boy with a recurrent de novo heterozygous PIEZO2 variant in exon 20 (NM_022068.3: c.2994G > A, p.(Met998Ile); NM_001378183.1: c.3069G > A, p.(Met1023Ile)), who presented at birth with DA and later developed respiratory insufficiency. His phenotype broadly fits the PIEZO2 phenotypic spectrum and potentially extends it with novel phenotypic features of pretibial linear vertical crease, immobile skin, immobile tongue, and lipid myopathy.
    MeSH term(s) Humans ; Arthrogryposis/diagnosis ; Arthrogryposis/genetics ; Pedigree ; Phenotype ; Ion Channels/genetics
    Chemical Substances PIEZO2 protein, human ; Ion Channels
    Language English
    Publishing date 2022-11-01
    Publishing country United States
    Document type Case Reports ; Research Support, Non-U.S. Gov't
    ZDB-ID 2108614-X
    ISSN 1552-4833 ; 0148-7299 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 0148-7299 ; 1552-4825
    DOI 10.1002/ajmg.a.63019
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  4. Article ; Online: Histopathology of the filum terminale in children with and without tethered cord syndrome with attention to the elastic tissue within the filum.

    Hendson, Glenda / Dunham, Christopher / Steinbok, Paul

    Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery

    2016  Volume 32, Issue 9, Page(s) 1683–1692

    Abstract: Purpose: To compare histologically transected fila from pediatric patients with tethered cord syndrome (TCS), with and without a low conus, with controls, focusing on collagenous and elastic tissue.: Methods: Thirty fila from patients with TCS, ... ...

    Abstract Purpose: To compare histologically transected fila from pediatric patients with tethered cord syndrome (TCS), with and without a low conus, with controls, focusing on collagenous and elastic tissue.
    Methods: Thirty fila from patients with TCS, including 5 where minimal cautery was used prior to filum section, were compared with fila from 27 pediatric cadavers without TCS (controls). Sections of fila were stained with H&E, Masson trichrome and Verhoeff von Gieson elastic stains, and 7 with Gordon and Sweet's reticulin stain.
    Results: Fila from controls showed loose fibrous connective tissue (FCT) with thin and evenly dispersed elastic fibers (EFs). Reticulin fibers (RFs) were seen in blood vessel walls and nerve twigs. Fat was identified microscopically in 2 fila. All fila from patients with TCS had dense FCT. The EFs were in normal numbers in 17, and focally or diffusely decreased in 13. All 25 patients where the fila were cauterized during resection had thick and coiled EFs. Coiling was not seen when minimal cautery was applied. RFs were seen in blood vessel walls and nerve twigs. Fat was identified in 19 patients. Findings were similar, whether the conus termination was normal or low.
    Conclusion: The fila of all patients with TCS, whether or not the conus was low, showed abnormal FCT. EFs were decreased in 48 % of patients; however, there were thick and coiled EFs in all patients. Coiling of EFs, initially thought to be an abnormality in patients, is considered most likely to be a result of cautery (i.e., artifactual/iatrogenic coiling).
    MeSH term(s) Adolescent ; Attention ; Cauda Equina/diagnostic imaging ; Cauda Equina/pathology ; Child ; Child, Preschool ; Connective Tissue/diagnostic imaging ; Connective Tissue/pathology ; Elastic Tissue/diagnostic imaging ; Elastic Tissue/pathology ; Female ; Humans ; Infant ; Magnetic Resonance Imaging/methods ; Male ; Neural Tube Defects/diagnostic imaging ; Neural Tube Defects/pathology
    Language English
    Publishing date 2016-09
    Publishing country Germany
    Document type Comparative Study ; Journal Article
    ZDB-ID 605988-0
    ISSN 1433-0350 ; 0302-2803 ; 0256-7040
    ISSN (online) 1433-0350
    ISSN 0302-2803 ; 0256-7040
    DOI 10.1007/s00381-016-3123-1
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  5. Article ; Online: An infant with congenital respiratory insufficiency and diaphragmatic paralysis: A novel BICD2 phenotype?

    Chin, Hui-Lin / Huynh, Stephanie / Ashkani, Jahanshah / Castaldo, Michael / Dixon, Katherine / Selby, Kathryn / Shen, Yaoqing / Wright, Marie / Boerkoel, Cornelius F / Hendson, Glenda / Jones, Steven J M

    American journal of medical genetics. Part A

    2021  Volume 188, Issue 3, Page(s) 926–930

    Abstract: Monoallelic pathogenic variants in BICD2 are associated with autosomal dominant Spinal Muscular Atrophy Lower Extremity Predominant 2A and 2B (SMALED2A, SMALED2B). As part of the cellular vesicular transport, complex BICD2 facilitates the flow of ... ...

    Abstract Monoallelic pathogenic variants in BICD2 are associated with autosomal dominant Spinal Muscular Atrophy Lower Extremity Predominant 2A and 2B (SMALED2A, SMALED2B). As part of the cellular vesicular transport, complex BICD2 facilitates the flow of constitutive secretory cargoes from the trans-Golgi network, and its dysfunction results in motor neuron loss. The reported phenotypes among patients with SMALED2A and SMALED2B range from a congenital onset disorder of respiratory insufficiency, arthrogryposis, and proximal or distal limb weakness to an adult-onset disorder of limb weakness and contractures. We report an infant with congenital respiratory insufficiency requiring mechanical ventilation, congenital diaphragmatic paralysis, decreased lung volume, and single finger camptodactyly. The infant displayed appropriate antigravity limb movements but had radiological, electrophysiological, and histopathological evidence of myopathy. Exome sequencing and long-read whole-genome sequencing detected a novel de novo BICD2 variant (NM_001003800.1:c.[1543G>A];[=]). This is predicted to encode p.(Glu515Lys); p.Glu515 is located in the coiled-coil 2 mutation hotspot. We hypothesize that this novel phenotype of diaphragmatic paralysis without clear appendicular muscle weakness and contractures of large joints is a presentation of BICD2-related disease.
    MeSH term(s) Contracture ; Humans ; Infant ; Microtubule-Associated Proteins/genetics ; Muscle Weakness ; Mutation ; Pedigree ; Phenotype ; Respiratory Insufficiency/genetics ; Respiratory Paralysis/genetics
    Chemical Substances BICD2 protein, human ; Microtubule-Associated Proteins
    Language English
    Publishing date 2021-11-26
    Publishing country United States
    Document type Case Reports
    ZDB-ID 2108614-X
    ISSN 1552-4833 ; 0148-7299 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 0148-7299 ; 1552-4825
    DOI 10.1002/ajmg.a.62578
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  6. Article ; Online: Clinical, imaging, and immunohistochemical characteristics of focal cortical dysplasia Type II extratemporal epilepsies in children: analyses of an institutional case series.

    Knerlich-Lukoschus, Friederike / Connolly, Mary B / Hendson, Glenda / Steinbok, Paul / Dunham, Christopher

    Journal of neurosurgery. Pediatrics

    2017  Volume 19, Issue 2, Page(s) 182–195

    Abstract: OBJECTIVE Focal cortical dysplasia (FCD) Type II is divided into 2 subgroups based on the absence (IIA) or presence (IIB) of balloon cells. In particular, extratemporal FCD Type IIA and IIB is not completely understood in terms of clinical, imaging, ... ...

    Abstract OBJECTIVE Focal cortical dysplasia (FCD) Type II is divided into 2 subgroups based on the absence (IIA) or presence (IIB) of balloon cells. In particular, extratemporal FCD Type IIA and IIB is not completely understood in terms of clinical, imaging, biological, and neuropathological differences. The aim of the authors was to analyze distinctions between these 2 formal entities and address clinical, MRI, and immunohistochemical features of extratemporal epilepsies in children. METHODS Cases formerly classified as Palmini FCD Type II nontemporal epilepsies were identified through the prospectively maintained epilepsy database at the British Columbia Children's Hospital in Vancouver, Canada. Clinical data, including age of seizure onset, age at surgery, seizure type(s) and frequency, affected brain region(s), intraoperative electrocorticographic findings, and outcome defined by Engel's classification were obtained for each patient. Preoperative and postoperative MRI results were reevaluated. H & E-stained tissue sections were reevaluated by using the 2011 International League Against Epilepsy classification system and additional immunostaining for standard cellular markers (neuronal nuclei, neurofilament, glial fibrillary acidic protein, CD68). Two additional established markers of pathology in epilepsy resection, namely, CD34 and α-B crystallin, were applied. RESULTS Seven nontemporal FCD Type IIA and 7 Type B cases were included. Patients with FCD Type IIA presented with an earlier age of epilepsy onset and slightly better Engel outcome. Radiology distinguished FCD Types IIA and IIB, in that Type IIB presented more frequently with characteristic cortical alterations. Nonphosphorylated neurofilament protein staining confirmed dysplastic cells in dyslaminated areas. The white-gray matter junction was focally blurred in patients with FCD Type IIB. α-B crystallin highlighted glial cells in the white matter and subpial layer with either of the 2 FCD Type II subtypes and balloon cells in patients with FCD Type IIB. α-B crystallin positivity proved to be a valuable tool for confirming the histological diagnosis of FCD Type IIB in specimens with rare balloon cells or difficult section orientation. Distinct nonendothelial cellular CD34 staining was found exclusively in tissue from patients with MRI-positive FCD Type IIB. CONCLUSIONS Extratemporal FCD Types IIA and IIB in the pediatric age group exhibited imaging and immunohistochemical characteristics; cellular immunoreactivity to CD34 emerged as an especially potential surrogate marker for lesional FCD Type IIB, providing additional evidence that FCD Types IIA and IIB might differ in their etiology and biology. Although the sample number in this study was small, the results further support the theory that postoperative outcome-defined by Engel's classification-is multifactorial and determined by not only histology but also the extent of the initial lesion, its location in eloquent areas, intraoperative electrocorticographic findings, and achieved resection grade.
    MeSH term(s) Brain/diagnostic imaging ; Brain/pathology ; Brain/physiopathology ; Brain/surgery ; Child ; Child, Preschool ; Drug Resistant Epilepsy/diagnostic imaging ; Drug Resistant Epilepsy/pathology ; Drug Resistant Epilepsy/physiopathology ; Drug Resistant Epilepsy/surgery ; Female ; Follow-Up Studies ; Humans ; Immunohistochemistry ; Infant ; Intraoperative Neurophysiological Monitoring/methods ; Magnetic Resonance Imaging ; Male ; Malformations of Cortical Development, Group II/diagnostic imaging ; Malformations of Cortical Development, Group II/pathology ; Malformations of Cortical Development, Group II/physiopathology ; Malformations of Cortical Development, Group II/surgery ; Neurosurgical Procedures/methods ; Prospective Studies ; Retrospective Studies
    Language English
    Publishing date 2017-02
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2403985-8
    ISSN 1933-0715 ; 1933-0707
    ISSN (online) 1933-0715
    ISSN 1933-0707
    DOI 10.3171/2016.8.PEDS1686
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    Uk I Zs.135 -Pediatrics-: Show issues Location:
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  7. Article ; Online: Novel findings and expansion of phenotype in a mosaic RASopathy caused by somatic KRAS variants.

    Chang, Caitlin A / Perrier, Renee / Kurek, Kyle C / Estrada-Veras, Juvianee / Lehman, Anna / Yip, Stephen / Hendson, Glenda / Diamond, Carol / Pinchot, Jason W / Tran, Jennifer M / Arkin, Lisa M / Drolet, Beth A / Napier, Melanie P / O'Neill, Sarah A / Balci, Tugce B / Keppler-Noreuil, Kim M

    American journal of medical genetics. Part A

    2021  Volume 185, Issue 9, Page(s) 2829–2845

    Abstract: Mosaic KRAS variants and other RASopathy genes cause oculoectodermal, encephalo-cranio-cutaneous lipomatosis, and Schimmelpenning-Feuerstein-Mims syndromes, and a spectrum of vascular malformations, overgrowth and other associated anomalies, the latter ... ...

    Abstract Mosaic KRAS variants and other RASopathy genes cause oculoectodermal, encephalo-cranio-cutaneous lipomatosis, and Schimmelpenning-Feuerstein-Mims syndromes, and a spectrum of vascular malformations, overgrowth and other associated anomalies, the latter of which are only recently being characterized. We describe eight individuals in total (six unreported cases and two previously reported cases) with somatic KRAS variants and variably associated features. Given the findings of somatic overgrowth (in seven individuals) and vascular or lymphatic malformations (in eight individuals), we suggest mosaic RASopathies (mosaic KRAS variants) be considered in the differential diagnosis for individuals presenting with asymmetric overgrowth and lymphatic or vascular anomalies. We expand the association with embryonal tumors, including the third report of embryonal rhabdomyosarcoma, as well as novel findings of Wilms tumor and nephroblastomatosis in two individuals. Rare or novel findings in our series include the presence of epilepsy, polycystic kidneys, and T-cell deficiency in one individual, and multifocal lytic bone lesions in two individuals. Finally, we describe the first use of targeted therapy with a MEK inhibitor for an individual with a mosaic KRAS variant. The purposes of this report are to expand the phenotypic spectrum of mosaic KRAS-related disorders, and to propose possible mechanisms of pathogenesis, and surveillance of its associated findings.
    MeSH term(s) Abnormalities, Multiple/genetics ; Abnormalities, Multiple/pathology ; Adolescent ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Infant, Newborn ; Kidney Neoplasms/genetics ; Kidney Neoplasms/pathology ; Male ; Mosaicism ; Mutation ; Phenotype ; Proto-Oncogene Proteins p21(ras)/genetics ; Vascular Malformations/genetics ; Vascular Malformations/pathology ; Wilms Tumor/genetics ; Wilms Tumor/pathology
    Chemical Substances KRAS protein, human ; Proto-Oncogene Proteins p21(ras) (EC 3.6.5.2)
    Language English
    Publishing date 2021-05-30
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 2108614-X
    ISSN 1552-4833 ; 0148-7299 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 0148-7299 ; 1552-4825
    DOI 10.1002/ajmg.a.62356
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  8. Article ; Online: Low-grade diffusely infiltrative tumour (LGDIT), SMARCB1-mutant: A clinical and histopathological distinct entity showing epigenetic similarity with ATRT-MYC.

    Hasselblatt, Martin / Thomas, Christian / Federico, Aniello / Bens, Susanne / Hellström, Mats / Casar-Borota, Olivera / Kordes, Uwe / Neumann, Julia E / Dottermusch, Matthias / Rodriguez, Fausto J / Lo, Andrea C / Cheng, Sylvia / Hendson, Glenda / Hukin, Juliette / Hartmann, Christian / Koch, Arend / Capper, David / Siebert, Reiner / Paulus, Werner /
    Nemes, Karolina / Johann, Pascal D / Frühwald, Michael C / Kool, Marcel

    Neuropathology and applied neurobiology

    2022  Volume 48, Issue 4, Page(s) e12797

    Abstract: Low-grade diffusely infiltrative tumour (LGDIT), SMARCB1-mutant, is a histopathological distinct low-grade lesion encountered in older children and young adults that shows epigenetic similarity with ATRT-MYC and has the potential for malignant ... ...

    Abstract Low-grade diffusely infiltrative tumour (LGDIT), SMARCB1-mutant, is a histopathological distinct low-grade lesion encountered in older children and young adults that shows epigenetic similarity with ATRT-MYC and has the potential for malignant progression.
    MeSH term(s) Child ; Epigenesis, Genetic ; Humans ; Rhabdoid Tumor/pathology ; SMARCB1 Protein/genetics ; Teratoma ; Young Adult
    Chemical Substances SMARCB1 Protein ; SMARCB1 protein, human
    Language English
    Publishing date 2022-02-18
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 80371-6
    ISSN 1365-2990 ; 0305-1846
    ISSN (online) 1365-2990
    ISSN 0305-1846
    DOI 10.1111/nan.12797
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  9. Article: Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex I deficiency.

    Apatean, Delia / Rakic, Bojana / Brunel-Guitton, Catherine / Hendson, Glenda / Bai, Renkui / Sargent, Michael A / Lavoie, Pascal M / Patel, Millan / Stockler-Ipsiroglu, Sylvia

    Molecular genetics and metabolism reports

    2019  Volume 18, Page(s) 32–38

    Abstract: Mitochondrial complex I is encoded by 38 nuclear-encoded and 7 mitochondrial-encoded genes. ...

    Abstract Mitochondrial complex I is encoded by 38 nuclear-encoded and 7 mitochondrial-encoded genes.
    Language English
    Publishing date 2019-01-18
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2821908-9
    ISSN 2214-4269
    ISSN 2214-4269
    DOI 10.1016/j.ymgmr.2018.12.006
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  10. Article: Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex 1 deficiency.

    Apatean, Delia / Rakic, Bojana / Brunel-Guitton, Catherine / Hendson, Glenda / Bai, Renkui / Sargent, Michael A / Lavoie, Pascal M / Patel, Millan / Stockler-Ipsiroglu, Sylvia

    Molecular genetics and metabolism reports

    2019  Volume 19, Page(s) 100472

    Abstract: Mitochondrial complex I is encoded by 38 nuclear-encoded and 7 mitochondrial-encoded genes. ...

    Abstract Mitochondrial complex I is encoded by 38 nuclear-encoded and 7 mitochondrial-encoded genes.
    Language English
    Publishing date 2019-04-30
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2821908-9
    ISSN 2214-4269
    ISSN 2214-4269
    DOI 10.1016/j.ymgmr.2019.100472
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