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https://www.readbyqxmd.com/read/30221345/genomic-screening-in-rare-disorders-new-mutations-and-phenotypes-highlighting-alg14-as-a-novel-cause-of-severe-intellectual-disability
#1
Malin Kvarnung, Fulya Taylan, Daniel Nilsson, Britt-Marie Anderlid, Helena Malmgren, Kristina Lagerstedt-Robinson, Eva Holmberg, Magnus Burstedt, Magnus Nordenskjöld, Ann Nordgren, Elisabeth Syk Lundberg
We have investigated 20 consanguineous families with multiple children affected by rare disorders. Detailed clinical examinations, exome sequencing of affected as well as unaffected family members and further validation of likely pathogenic variants were performed. In 16/20 families, we identified pathogenic variants in autosomal recessive disease genes (ALMS1, PIGT, FLVCR2, TFG, CYP7B1, ALG14, EXOSC3, MEGF10, ASAH1, WDR62, ASPM, PNPO, ERCC5, KIAA1109, RIPK4, MAN1B1). A number of these genes have only rarely been reported previously and our findings thus confirm them as disease genes, further delineate the associated phenotypes and expand the mutation spectrum with reports of novel variants...
September 16, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29588952/gene-panel-analysis-for-nonsyndromic-cryptogenic-neonatal-infantile-epileptic-encephalopathy
#2
Cheuk-Wing Fung, Anna Ka-Yee Kwong, Virginia Chun-Nei Wong
Objective: Epileptic encephalopathy (EE) is a heterogeneous condition associated with deteriorations of cognitive, sensory and/or motor functions as a consequence of epileptic activity. The phenomenon is the most common and severe in infancy and early childhood. Genetic-based diagnosis in EE patients is challenging owing to genetic and phenotypic heterogeneity of numerous monogenic disorders and the fact that thousands of genes are involved in neurodevelopment. Therefore, high-throughput next-generation sequencing (NGS) was used to investigate the genetic causes of non-syndromic cryptogenic neonatal/infantile EE (NIEE)...
June 2017: Epilepsia Open
https://www.readbyqxmd.com/read/29548777/corrigendum-to-pyridoxine-5-phosphate-oxidase-pnpo-deficiency-clinical-and-biochemical-alterations-associated-with-the-c-347g-a-p-%C3%A2-arg116gln-mutation-mol-genet-metab-122-1-2-2017-135-142
#3
Martino L di Salvo, Mario Mastrangelo, Isabel Nogués, Manuela Tolve, Alessandro Paiardini, Carla Carducci, Davide Mei, Martino Montomoli, Angela Tramonti, Renzo Guerrini, Roberto Contestabile, Vincenzo Leuzzi
No abstract text is available yet for this article.
March 14, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29379851/biochemical-data-from-the-characterization-of-a-new-pathogenic-mutation-of-human-pyridoxine-5-phosphate-oxidase-pnpo
#4
Martino L di Salvo, Mario Mastrangelo, Isabel Nogués, Manuela Tolve, Alessandro Paiardini, Carla Carducci, Davide Mei, Martino Montomoli, Angela Tramonti, Renzo Guerrini, Roberto Contestabile, Vincenzo Leuzzi
PNPO deficiency is responsible of severe neonatal encephalopathy, responsive to pyridoxal-5'-phosphate (PLP) or pyridoxine. Recent studies widened the phenotype of this condition and detected new genetic variants on PNPO gene, whose pathogenetic role and clinical expression remain to be established. One of these mutations, Arg116Gln, is of particular interest because of its later onset of symptoms (beyond the first months of life) and its peculiar epileptic manifestations in patients. This protein variant was expressed as recombinant protein in E coli , purified to homogeneity, and characterized with respect to structural and kinetic properties, stability, binding constants of cofactor flavin mononucleotide (FMN) and product (PLP) in order to define the molecular and structural bases of its pathogenicity...
December 2017: Data in Brief
https://www.readbyqxmd.com/read/29238081/pyridoxine-5-phosphate-oxidase-is-a-novel-therapeutic-target-and-regulated-by-the-tgf-%C3%AE-signalling-pathway-in-epithelial-ovarian-cancer
#5
Lingyun Zhang, Daibing Zhou, Wencai Guan, Weimin Ren, Wenwen Sun, Jimin Shi, Qunbo Lin, Jinguo Zhang, Tiankui Qiao, Yulong Ye, Yun Wu, Yaning Zhang, Xulei Zuo, Kristin L Connor, Guoxiong Xu
Pyridoxine 5'-phosphate oxidase (PNPO) is an enzyme that converts pyridoxine 5'-phosphate into pyridoxal 5'-phosphate (PLP), an active form of vitamin B6 implicated in several types of cancer. However, the role of PNPO and its regulatory mechanism in epithelial ovarian cancer (EOC) are unknown. In the present study, PNPO expression in human ovarian tumour tissue and its association with the clinicopathological features of patients with EOC were examined. Further, the biological function of PNPO in EOC cells and in xenograft was evaluated...
December 13, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/29221110/a-seven-gene-signature-predicts-overall-survival-of-patients-with-colorectal-cancer
#6
Huarong Chen, Xiaoqiang Sun, Weiting Ge, Yun Qian, Rui Bai, Shu Zheng
Colorectal cancer (CRC) is a major cause of global cancer mortality. Gene expression profiles can help predict prognosis of patients with CRC. In most of previous studies, disease recurrence was analyzed as the survival endpoint. Thus we aim to build a robust gene signature for prediction of overall survival (OS) in patients with CRC. Fresh frozen CRC tissues from 64 patients were analyzed using Affymetrix HG-U133plus 2.0 gene arrays. By performing univariate survival analysis, 6487 genes were found to be associated with the OS in our cohort...
November 10, 2017: Oncotarget
https://www.readbyqxmd.com/read/28985901/systemic-manifestations-in-pyridox-am-ine-5-phosphate-oxidase-deficiency
#7
Réjean M Guerriero, Archana A Patel, Brian Walsh, Fiona M Baumer, Ankoor S Shah, Jurriaan M Peters, Lance H Rodan, Pankaj B Agrawal, Phillip L Pearl, Masanori Takeoka
OBJECTIVE: Pyridoxine is converted to its biologically active form pyridoxal-5-phosphate (P5P) by the enzyme pyridox(am)ine 5'-phosphate oxidase and serves as a cofactor in nearly 200 reactions in the central nervous system. Pyridox(am)ine 5'-phosphate oxidase deficiency leads to P5P dependent epilepsy, typically a neonatal- or infantile-onset epileptic encephalopathy treatable with P5P or in some cases, pyridoxine. Following identification of retinopathy in a patient with pyridox(am)ine 5'-phosphate oxidase deficiency that was reversible with P5P therapy, we describe the systemic manifestations of pyridox(am)ine 5'-phosphate oxidase deficiency...
November 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28818555/pyridoxine-5-phosphate-oxidase-pnpo-deficiency-clinical-and-biochemical-alterations-associated-with-the-c-347g-a-p-%C3%A2-arg116gln-mutation
#8
Martino L di Salvo, Mario Mastrangelo, Isabel Nogués, Manuela Tolve, Alessandro Paiardini, Carla Carducci, Davide Mei, Martino Montomoli, Angela Tramonti, Renzo Guerrini, Roberto Contestabile, Vincenzo Leuzzi
BACKGROUND: Pyridoxal-5' -phosphate oxidase (PNPO) deficiency presents as a severe neonatal encephalopathy responsive to pyridoxal-5' -phosphate (PLP) or pyridoxine. Recent studies widened the phenotype of this condition and detected genetic variants on PNPO gene whose pathogenic role and clinical expression remain to be established. OBJECTIVE: This paper aims to characterize the functional effects of the c.347G>A (p.Arg116Gln) mutation in the PNPO gene in order to define its pathogenicity and describe the clinical features of new patients with epilepsy carrying this mutation...
September 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28782931/an-lc-ms-ms-based-method-for-the-quantification-of-pyridox-am-ine-5-phosphate-oxidase-activity-in-dried-blood-spots-from-patients-with-epilepsy
#9
Matthew P Wilson, Emma J Footitt, Apostolos Papandreou, Mari-Liis Uudelepp, Ronit Pressler, Danielle C Stevenson, Camila Gabriel, Mel McSweeney, Matthew Baggot, Derek Burke, Tommy Stödberg, Kate Riney, Manuel Schiff, Simon J R Heales, Kevin A Mills, Paul Gissen, Peter T Clayton, Philippa B Mills
We report the development of a rapid, simple, and robust LC-MS/MS-based enzyme assay using dried blood spots (DBS) for the diagnosis of pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency (OMIM 610090). PNPO deficiency leads to potentially fatal early infantile epileptic encephalopathy, severe developmental delay, and other features of neurological dysfunction. However, upon prompt treatment with high doses of vitamin B6, affected patients can have a normal developmental outcome. Prognosis of these patients is therefore reliant upon a rapid diagnosis...
September 5, 2017: Analytical Chemistry
https://www.readbyqxmd.com/read/28391250/confirmation-of-mutations-in-prosc-as-a-novel-cause-of-vitamin-b-6-dependent-epilepsy
#10
Barbara Plecko, Markus Zweier, Anaïs Begemann, Deborah Mathis, Bernhard Schmitt, Pasquale Striano, Martina Baethmann, Maria Stella Vari, Francesca Beccaria, Federico Zara, Lisa M Crowther, Pascal Joset, Heinrich Sticht, Sorina Mihaela Papuc, Anita Rauch
Vitamin-B6 -dependent epilepsies are a heterogenous group of treatable disorders due to mutations in several genes ( ALDH7A1, PNPO, ALPL or ALDH4A1 ). In neonatal seizures, defects in ALDH7A1 and PNPO explain a major fraction of cases. Very recently biallelic mutations in PROSC were shown to be a novel cause in five families. We identified four further unrelated patients harbouring a total of six different mutations, including four novel disease mutations. Vitamin B6 plasma profiles on pyridoxine did not enable the differentiation of patients with PROSC mutations...
December 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28349276/novel-phenotypes-of-pyridox-am-ine-5-phosphate-oxidase-deficiency-and-high-prevalence-of-c-445_448del-mutation-in-chinese-patients
#11
Jiao Xue, Xingzhi Chang, Yuehua Zhang, Zhixian Yang
To analyze the clinical and genetic characteristics of Chinese patients with pyridox(am)ine-5'-phosphate oxidase (PNPO) deficiency. The clinical presentations and the responses to treatments were analyzed in 4 patients. Blood and urinary metabolic screenings, electroencephalogram (EEG), brain magnetic resonance imaging (MRI) and epilepsy-related genes detection were performed in all patients. Patient 1 and 2 were identical twin brothers, who were born at 35+5 w gestation with a sign of encephalopathy. Their seizures started within the first day and could not be controlled by pyridoxine or pyridoxal-5'-phosphate (PLP) completely...
August 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28133863/genetics-and-genotype-phenotype-correlations-in-early-onset-epileptic-encephalopathy-with-burst-suppression
#12
Heather E Olson, McKenna Kelly, Christopher M LaCoursiere, Rebecca Pinsky, Dimira Tambunan, Catherine Shain, Sriram Ramgopal, Masanori Takeoka, Mark H Libenson, Kristina Julich, Tobias Loddenkemper, Eric D Marsh, Devorah Segal, Susan Koh, Michael S Salman, Alex R Paciorkowski, Edward Yang, Ann M Bergin, Beth Rosen Sheidley, Annapurna Poduri
OBJECTIVE: We sought to identify genetic causes of early onset epileptic encephalopathies with burst suppression (Ohtahara syndrome and early myoclonic encephalopathy) and evaluate genotype-phenotype correlations. METHODS: We enrolled 33 patients with a referral diagnosis of Ohtahara syndrome or early myoclonic encephalopathy without malformations of cortical development. We performed detailed phenotypic assessment including seizure presentation, electroencephalography, and magnetic resonance imaging...
March 2017: Annals of Neurology
https://www.readbyqxmd.com/read/27772930/challenges-in-the-management-of-pyridoxamine-5-phosphate-oxidase-pnpo-deficiency
#13
Richard I Webster
No abstract text is available yet for this article.
February 2016: Pathology
https://www.readbyqxmd.com/read/27494884/a-seven-gene-signature-predicts-overall-survival-of-patients-with-colorectal-cancer
#14
Huarong Chen, Xiaoqiang Sun, Weiting Ge, Yun Qian, Rui Bai, Shu Zheng
Colorectal cancer (CRC) is a major cause of global cancer mortality. Gene expression profiles can help predict prognosis of patients with CRC. In most of previous studies, disease recurrence was analyzed as the survival endpoint. Thus we aim to build a robust gene signature for prediction of overall survival (OS) in patients with CRC. Fresh frozen CRC tissues from 64 patients were analyzed using Affymetrix HG-U133plus 2.0 gene arrays. By performing univariate survival analysis, 6487 genes were found to be associated with the OS in our cohort...
August 1, 2016: Oncotarget
https://www.readbyqxmd.com/read/27419045/inactive-mutants-of-human-pyridoxine-5-phosphate-oxidase-a-possible-role-for-a-noncatalytic-pyridoxal-5-phosphate-tight-binding-site
#15
Mohini S Ghatge, Sayali S Karve, Tanya M S David, Mostafa H Ahmed, Faik N Musayev, Kendra Cunningham, Verne Schirch, Martin K Safo
Pyridoxal 5'-phosphate (PLP) is a cofactor for many vitamin B6-requiring enzymes that are important for the synthesis of neurotransmitters. Pyridoxine 5'-phosphate oxidase (PNPO) is one of two enzymes that produce PLP. Some 16 known mutations in human PNPO (hPNPO), including R95C and R229W, lead to deficiency of PLP in the cell and have been shown to cause neonatal epileptic encephalopathy (NEE). This disorder has no effective treatment, and is often fatal unless treated with PLP. In this study, we show that R95C hPNPO exhibits a 15-fold reduction in affinity for the FMN cofactor, a 71-fold decrease in affinity for the substrate PNP, a 4...
May 2016: FEBS Open Bio
https://www.readbyqxmd.com/read/27342130/the-value-of-plasma-vitamin-b6-profiles-in-early-onset-epileptic-encephalopathies
#16
Déborah Mathis, Lucia Abela, Monique Albersen, Céline Bürer, Lisa Crowther, Karin Beese, Hans Hartmann, Levinus A Bok, Eduard Struys, Sorina M Papuc, Anita Rauch, Martin Hersberger, Nanda M Verhoeven-Duif, Barbara Plecko
BACKGROUND: Recent decades have unravelled the molecular background of a number of inborn errors of metabolism (IEM) causing vitamin B6-dependent epilepsy. As these defects interfere with vitamin B6 metabolism by different mechanisms, the plasma vitamin B6 profile can give important clues for further molecular work-up. This has so far been investigated in only a small number of patients. METHODS: We evaluated the vitamin B6 vitamers pyridoxal 5'-phosphate (PLP), pyridoxal (PL), pyridoxamine (PM), pyridoxine (PN) and the catabolite pyridoxic acid (PA) in the so far largest patient cohort: reference (n = 50); pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency (n = 6); antiquitin (ATQ) deficiency (n = 21); tissue non-specific alkaline phosphatase (TNSALP) deficiency (n = 2) and epileptic encephalopathy (EE) of unknown etiology tested negative for ATQ and PNPO deficiency (n = 64)...
September 2016: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27014579/pyridoxine-responsive-epilepsy-caused-by-a-novel-homozygous-pnpo-mutation
#17
B Jaeger, N G Abeling, G S Salomons, E A Struys, M Simas-Mendes, V G Geukers, B T Poll-The
We report a patient with anti-epileptic treatment refractory neonatal seizures responsive to pyridoxine. Biochemical analysis revealed normal markers for antiquitin deficiency and also mutation analysis of the ALDH7A1 (Antiquitin) gene was negative. Mutation analysis of the PNPO gene revealed a novel, homozygous, presumed pathogenic mutation (c.481C > T; p.(Arg161Cys)). Measurements of B6 vitamers in a CSF sample after pyridoxine administration revealed elevated pyridoxamine as the only metabolic marker for PNPO deficiency...
March 2016: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/26535729/pyridoxal-5%C3%AA-phosphate-responsive-epilepsy-with-novel-mutations-in-the-pnpo-gene-a-case-report
#18
M Veeravigrom, P Damrongphol, R Ittiwut, C Ittiwut, K Suphapeetiporn, V Shotelersuk
Pyridoxal 5'-phosphate (PLP)-responsive epilepsy is a rare autosomal recessive epileptic disorder caused by deficiency of pyridox(am)-ne 5'-phosphate oxidase (PNPO). Neonatal onset seizures in PLP responsive epilepsy are usually resistant to common anticonvulsants and pyridoxine, but respond to PLP. Various PNPO mutations are associated with this disorder. In this report, we have described a case of a female baby with neonatal onset seizures responding to PLP. Exome sequencing revealed that the patient was compound heterozygous for pathogenic mutations [c...
2015: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/26442586/degradation-of-stop-codon-read-through-mutant-proteins-via-the-ubiquitin-proteasome-system-causes-hereditary-disorders
#19
Norihito Shibata, Nobumichi Ohoka, Yusuke Sugaki, Chiaki Onodera, Mizuho Inoue, Yoshiyuki Sakuraba, Daisuke Takakura, Noritaka Hashii, Nana Kawasaki, Yoichi Gondo, Mikihiko Naito
During translation, stop codon read-through occasionally happens when the stop codon is misread, skipped, or mutated, resulting in the production of aberrant proteins with C-terminal extension. These extended proteins are potentially deleterious, but their regulation is poorly understood. Here we show in vitro and in vivo evidence that mouse cFLIP-L with a 46-amino acid extension encoded by a read-through mutant gene is rapidly degraded by the ubiquitin-proteasome system, causing hepatocyte apoptosis during embryogenesis...
November 20, 2015: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/26310861/long-term-outcome-in-pyridoxine-responsive-infantile-epilepsy
#20
R Riikonen, K Mankinen, E Gaily
BACKGROUND: Dose regimens of pyridoxine (vitamin B6) for treatment of infantile spasms have varied from 200 mg/d to 300 mg/kg/d. Only two long-term outcome studies of the treated patients are available. METHODS: We asked all pediatric neurologists treating pediatric epilepsy in Finland if they had seen patients with pyridoxine-responsive infantile epilepsy. Five children with infantile spasms and hypsarrhythmia and one with focal epilepsy were reported as pyridoxine responders...
November 2015: European Journal of Paediatric Neurology: EJPN
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