Literature DB >> 31231132

Clinical Utility Gene Card for: PGM3 defective congenital disorder of glycosylation.

Jaak Jaeken1, Dirk J Lefeber2, Gert Matthijs3.   

Abstract

Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for mutations in PGM3 in diagnostic, predictive and prenatal settings, and for risk assessment in relatives.

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Year:  2019        PMID： 31231132      PMCID： PMC6871091          DOI： 10.1038/s41431-019-0453-y

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


  9 in total

1.  A founder mutation underlies a severe form of phosphoglutamase 3 (PGM3) deficiency in Tunisian patients.

Authors:  Leila Ben-Khemis; Najla Mekki; Imen Ben-Mustapha; Karen Rouault; Fethi Mellouli; Monia Khemiri; Mohamed Bejaoui; Leila Essaddam; Saayda Ben-Becher; Lamia Boughamoura; Saida Hassayoun; Meriem Ben-Ali; Mohamed-Ridha Barbouche
Journal:  Mol Immunol       Date:  2017-07-10       Impact factor: 4.407

2.  Neonatal-onset T(-)B(-)NK(+) severe combined immunodeficiency and neutropenia caused by mutated phosphoglucomutase 3.

Authors:  Jens Magnus Bernth-Jensen; Mette Holm; Mette Christiansen
Journal:  J Allergy Clin Immunol       Date:  2015-09-26       Impact factor: 10.793

3.  A Novel PGM3 Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure, Severe Combined Immunodeficiency, Skeletal Dysplasia, and Congenital Malformations.

Authors:  Guillermo Pacheco-Cuéllar; Julie Gauthier; Valérie Désilets; Christian Lachance; Marlène Lemire-Girard; Françoise Rypens; Françoise Le Deist; Hélène Decaluwe; Michel Duval; Dorothée Bouron-Dal Soglio; Victor Kokta; Élie Haddad; Philippe M Campeau
Journal:  J Bone Miner Res       Date:  2017-06-26       Impact factor: 6.741

4.  Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment.

Authors:  Yu Zhang; Xiaomin Yu; Mie Ichikawa; Jonathan J Lyons; Shrimati Datta; Ian T Lamborn; Huie Jing; Emily S Kim; Matthew Biancalana; Lynne A Wolfe; Thomas DiMaggio; Helen F Matthews; Sarah M Kranick; Kelly D Stone; Steven M Holland; Daniel S Reich; Jason D Hughes; Huseyin Mehmet; Joshua McElwee; Alexandra F Freeman; Hudson H Freeze; Helen C Su; Joshua D Milner
Journal:  J Allergy Clin Immunol       Date:  2014-02-28       Impact factor: 10.793

5.  PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.

Authors:  Asbjørg Stray-Pedersen; Paul H Backe; Hanne S Sorte; Lars Mørkrid; Niti Y Chokshi; Hans Christian Erichsen; Tomasz Gambin; Katja B P Elgstøen; Magnar Bjørås; Marcin W Wlodarski; Marcus Krüger; Shalini N Jhangiani; Donna M Muzny; Ankita Patel; Kimiyo M Raymond; Ghadir S Sasa; Robert A Krance; Caridad A Martinez; Shirley M Abraham; Carsten Speckmann; Stephan Ehl; Patricia Hall; Lisa R Forbes; Else Merckoll; Jostein Westvik; Gen Nishimura; Cecilie F Rustad; Tore G Abrahamsen; Arild Rønnestad; Liv T Osnes; Torstein Egeland; Olaug K Rødningen; Christine R Beck; Eric A Boerwinkle; Richard A Gibbs; James R Lupski; Jordan S Orange; Ekkehart Lausch; I Celine Hanson
Journal:  Am J Hum Genet       Date:  2014-06-12       Impact factor: 11.025

6.  Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels.

Authors:  Atfa Sassi; Sandra Lazaroski; Gang Wu; Stuart M Haslam; Manfred Fliegauf; Fethi Mellouli; Turkan Patiroglu; Ekrem Unal; Mehmet Akif Ozdemir; Zineb Jouhadi; Khadija Khadir; Leila Ben-Khemis; Meriem Ben-Ali; Imen Ben-Mustapha; Lamia Borchani; Dietmar Pfeifer; Thilo Jakob; Monia Khemiri; A Charlotta Asplund; Manuela O Gustafsson; Karin E Lundin; Elin Falk-Sörqvist; Lotte N Moens; Hatice Eke Gungor; Karin R Engelhardt; Magdalena Dziadzio; Hans Stauss; Bernhard Fleckenstein; Rebecca Meier; Khairunnadiya Prayitno; Andrea Maul-Pavicic; Sandra Schaffer; Mirzokhid Rakhmanov; Philipp Henneke; Helene Kraus; Hermann Eibel; Uwe Kölsch; Sellama Nadifi; Mats Nilsson; Mohamed Bejaoui; Alejandro A Schäffer; C I Edvard Smith; Anne Dell; Mohamed-Ridha Barbouche; Bodo Grimbacher
Journal:  J Allergy Clin Immunol       Date:  2014-04-01       Impact factor: 10.793

7.  Susceptibility to infections, without concomitant hyper-IgE, reported in 1976, is caused by hypomorphic mutation in the phosphoglucomutase 3 (PGM3) gene.

Authors:  Karin E Lundin; Abdulrahman Hamasy; Paul Hoff Backe; Lotte N Moens; Elin Falk-Sörqvist; Katja B Elgstøen; Lars Mørkrid; Magnar Bjørås; Carl Granert; Anna-Carin Norlin; Mats Nilsson; Birger Christensson; Stephan Stenmark; C I Edvard Smith
Journal:  Clin Immunol       Date:  2015-10-19       Impact factor: 3.969

8.  Diagnostics of primary immunodeficiency diseases: a sequencing capture approach.

Authors:  Lotte N Moens; Elin Falk-Sörqvist; A Charlotta Asplund; Ewa Bernatowska; C I Edvard Smith; Mats Nilsson
Journal:  PLoS One       Date:  2014-12-11       Impact factor: 3.240

9.  Eleven percent intact PGM3 in a severely immunodeficient patient with a novel splice-site mutation, a case report.

Authors:  Karin E Lundin; Qing Wang; Abdulrahman Hamasy; Per Marits; Mehmet Uzunel; Valtteri Wirta; Ann-Charlotte Wikström; Anders Fasth; Olov Ekwall; C I Edvard Smith
Journal:  BMC Pediatr       Date:  2018-08-29       Impact factor: 2.125
  9 in total
  1 in total

Review 1.  Inborn errors of immunity associated with characteristic phenotypes.

Authors:  Maine Luellah Demaret Bardou; Marina Teixeira Henriques; Anete Sevciovic Grumach
Journal:  J Pediatr (Rio J)       Date:  2020-12-19       Impact factor: 2.990
  1 in total

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