First pediatric case with primary familial brain calcification due to a novel variant on the MYORG gene and review of the literature

2021 ◽  
Author(s):  
Leman Tekin Orgun ◽  
Şeyda Besen ◽  
Özlem Sangün ◽  
Atıl Bisgin ◽  
Özlem Alkan ◽  
...  
Keyword(s):  
Review Of The Literature ◽  
Pediatric Case ◽  
Primary Familial Brain Calcification ◽  
Brain Calcification ◽  
Novel Variant

scholarly journals A novel PDGFRB sequence variant in a family with a mild form of primary familial brain calcification: a case report and a review of the literature

BMC Neurology ◽  
2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Stine Westergaard Mathorne ◽  
Kristina Sørensen ◽  
Christina Fagerberg ◽  
Matthias Bode ◽  
Jens Michael Hertz
Keyword(s):  
Case Report ◽  
Sequence Variant ◽  
Review Of The Literature ◽  
Mild Form ◽  
Primary Familial Brain Calcification ◽  
Brain Calcification

JAM2: A New Culprit at the Pathophysiology of Primary Familial Brain Calcification

2021 ◽  
Author(s):  
Waydja L. V. A. Marinho ◽  
João Ricardo M. de Oliveira
Keyword(s):  
Primary Familial Brain Calcification ◽  
Brain Calcification

scholarly journals Expanding the genetic spectrum of primary familial brain calcification due to SLC2OA2 mutations: a case series

Neurogenetics ◽  
2021 ◽  
Author(s):  
Luca Magistrelli ◽  
Roberta Croce ◽  
Fabiola De Marchi ◽  
Chiara Basagni ◽  
Miryam Carecchio ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Case Series ◽  
Dominant Trait ◽  
Autosomal Dominant Trait ◽  
Phenotypic Spectrum ◽  
Primary Familial Brain Calcification ◽  
Psychiatric Disturbances ◽  
Brain Calcification ◽  
Uncertain Significance ◽  
Six Genes

AbstractPrimary familial brain calcification (PFBC) is a neurological condition characterized by the presence of intracranial calcifications, mainly involving basal ganglia, thalamus, and dentate nuclei. So far, six genes have been linked to this condition: SLC20A2, PDGFRB, PDGFB, and XPR1 inherited as autosomal-dominant trait, while MYORG and JAM2 present a recessive pattern of inheritance. Patients mainly present with movement disorders, psychiatric disturbances, and cognitive decline or are completely asymptomatic and calcifications may represent an occasional finding. Here we present three variants in SLC20A2, two exonic and one intronic, which we found in patients with PFBC associated to three different clinical phenotypes. One variant is novel and two were already described as variants of uncertain significance. We confirm the pathogenicity of these three variants and suggest a broadening of the phenotypic spectrum associated with mutations in SLC20A2.

A Novel Heterozygous ANO3 Mutation in a Child Presenting Tremor with Dystonia and Review of the Literature

2021 ◽  
Author(s):  
Muhammet Furkan Korkmaz ◽  
Arzu Ekici ◽  
Orhan Görükmez
Keyword(s):  
Medical Staff ◽  
Autosomal Dominant ◽  
Clinical Aspect ◽  
Review Of The Literature ◽  
Girl Child ◽  
Phenotypic Spectrum ◽  
Novel Variant ◽  
Child Patient

AbstractMutations in ANO3 have recently been identified as an autosomal dominant cause of dystonia (dystonia-24). Since then, the phenotypic spectrum has also been extended in children. Here, we reported a case of a 10-year-old Turkish girl child patient with a novel variant (NM_001313726: c.221dupA, p.Tyr74*), who exhibited tremor with mild dystonia. This report expands the phenotype caused by ANO3 variants and reveals an essential clinical aspect for patients and medical staff.

Analysis of gene expression and functional characterization of XPR1: a pathogenic gene for primary familial brain calcification

2017 ◽  
Vol 370 (2) ◽  
pp. 267-273 ◽  
Author(s):  
Xiang-Ping Yao ◽  
Miao Zhao ◽  
Chong Wang ◽  
Xin-Xin Guo ◽  
Hui-Zhen Su ◽  
...  
Keyword(s):  
Gene Expression ◽  
Functional Characterization ◽  
Primary Familial Brain Calcification ◽  
Brain Calcification ◽  
Pathogenic Gene

scholarly journals Blastic Plasmacytoid Dendritic Cell Neoplasm: A Pediatric Case Report With Review of the Literature

2013 ◽  
Vol 140 (suppl 1) ◽  
pp. A135-A135
Author(s):  
Yanli Ding ◽  
Weiwei Chen ◽  
Zachary O'Neill ◽  
Maurice Barcos ◽  
Amy Sands ◽  
...  
Keyword(s):  
Case Report ◽  
Dendritic Cell ◽  
Plasmacytoid Dendritic Cell ◽  
Review Of The Literature ◽  
Pediatric Case ◽  
Cell Neoplasm

scholarly journals MYORG is associated with recessive primary familial brain calcification

2018 ◽  
Vol 6 (1) ◽  
pp. 106-113 ◽  
Author(s):  
David Arkadir ◽  
Alexander Lossos ◽  
Dolev Rahat ◽  
Muneer Abu Snineh ◽  
Ora Schueler-Furman ◽  
...  
Keyword(s):  
Primary Familial Brain Calcification ◽  
Brain Calcification

scholarly journals Cardiac Epithelioid PEComa: Report of Two Cases and Review of the Literature

2012 ◽  
Vol 2012 ◽  
pp. 1-6 ◽  
Author(s):  
Huilin Niu ◽  
F. W. Wang ◽  
Paul J. Zhang ◽  
Zhanyong Bing
Keyword(s):  
Clear Cell ◽  
Coagulation Necrosis ◽  
Review Of The Literature ◽  
Epithelioid Cells ◽  
Adult Case ◽  
Pediatric Case ◽  
High Mitotic Activity ◽  
Atypical Mitosis ◽  
Malignant Behavior ◽  
Hmb 45

Cardiac PEComa is very rare. We reported two cases of epithelioid PEComas, one in an adult and one in a 2-year-old child. Both tumors were composed of sheets of epithelioid cells with coagulation necrosis. In addition, the adult case showed marked nuclear atypia and high mitotic activity with atypical mitosis and the pediatric case showed unusual clear cell features. Immunohistochemically, both tumors were positive for HMB-45 and SMA and negative for S100 and cytokeratin. Electron microscopy was performed in the pediatric case and showed premelanosomes. The adult patient developed extensive metastasis indicating malignant behavior. Prior to the two cases, only 5 other cases of cardiac PEComa were reported and the literatures are reviewed.

Two new SCL20A2 mutations identified in two southern Italy families with primary familial brain calcification

2016 ◽  
Vol 22 ◽  
pp. e174
Author(s):  
Sara Scannapieco ◽  
Monica Gagliardi ◽  
Grazia Annesi ◽  
Maurizio Morelli ◽  
Grazia Iannello ◽  
...  
Keyword(s):  
Southern Italy ◽  
Primary Familial Brain Calcification ◽  
Brain Calcification

Primary familial brain calcification presenting as paroxysmal kinesigenic dyskinesia: Genetic and functional analyses

2020 ◽  
Vol 714 ◽  
pp. 134543 ◽  
Author(s):  
Fei-Xia Zhan ◽  
Wo-Tu Tian ◽  
Chao Zhang ◽  
Ze-Yu Zhu ◽  
Shi-Ge Wang ◽  
...  
Keyword(s):  
Primary Familial Brain Calcification ◽  
Paroxysmal Kinesigenic Dyskinesia ◽  
Brain Calcification ◽  
Functional Analyses
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