Novel variants and clinical symptoms in four new ALG3-CDG patients, review of the literature, and identification of AAGRP-ALG3 as a novel ALG3 variant with alanine and glycine-rich N-terminus.

Animals COS Cells Cells, Cultured Child, Preschool Chlorocebus aethiops Congenital Disorders of Glycosylation / genetics Female Humans Infant Male Mannosyltransferases / genetics Mutation Open Reading Frames Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase / deficiency Polymorphism, Single Nucleotide
AAGRP ALG3 CDG-I congenital disorders of glycosylation hybrid protein mannosyltransferase

Journal

Human mutation
ISSN: 1098-1004
Titre abrégé: Hum Mutat
Pays: United States
ID NLM: 9215429

Informations de publication

Date de publication:
07 2019
Historique:
received: 22 01 2019
revised: 03 04 2019
accepted: 09 04 2019
pubmed: 9 5 2019
medline: 18 3 2020
entrez: 9 5 2019
Statut: ppublish

Résumé

ALG3-CDG is one of the very rare types of congenital disorder of glycosylation (CDG) caused by variants in the ER-mannosyltransferase ALG3. Here, we summarize the clinical, biochemical, and genetic data of four new ALG3-CDG patients, who were identified by a type I pattern of serum transferrin and the accumulation of Man

Identifiants

DOI: 10.1002/humu.23764 PMID: 31067009
pubmed: 31067009
doi: 10.1002/humu.23764
doi:

Substances chimiques

ALG3 protein, human EC 2.4.1.-
Mannosyltransferases EC 2.4.1.-
Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase EC 3.5.1.52

Types de publication

Case Reports Journal Article Research Support, Non-U.S. Gov't Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

938-951

Subventions

Organisme : Fondation Maladies Rares
ID : High throughput sequencing and Rare Diseases Proje
Pays : International
Organisme : Deutsche Forschungsgemeinschaft
ID : FOR2509: TH1461/7-1
Pays : International
Organisme : European Union's Horizon 2020 research and innovation program
ID : ERA-NET Cofundation N° 643578 - EURO-CDG 2/ BMB
Pays : International

Informations de copyright

© 2019 Wiley Periodicals, Inc.

Auteurs

Nastassja Himmelreich (N)

Center for Child and Adolescent Medicine, Department Pediatrics I, University of Heidelberg, Heidelberg, Germany.

Bianca Dimitrov (B)

Center for Child and Adolescent Medicine, Department Pediatrics I, University of Heidelberg, Heidelberg, Germany.

Virginia Geiger (V)

Center for Child and Adolescent Medicine, Department Pediatrics I, University of Heidelberg, Heidelberg, Germany.

Matthias Zielonka (M)

Center for Child and Adolescent Medicine, Department Pediatrics I, University of Heidelberg, Heidelberg, Germany.

Anna-Marlen Hutter (AM)

Center for Child and Adolescent Medicine, Department Pediatrics I, University of Heidelberg, Heidelberg, Germany.

Lars Beedgen (L)

Center for Child and Adolescent Medicine, Department Pediatrics I, University of Heidelberg, Heidelberg, Germany.

Andreas Hüllen (A)

Center for Child and Adolescent Medicine, Department Pediatrics I, University of Heidelberg, Heidelberg, Germany.

Maximilian Breuer (M)

Center for Child and Adolescent Medicine, Department Pediatrics I, University of Heidelberg, Heidelberg, Germany.

Verena Peters (V)

Center for Child and Adolescent Medicine, Department Pediatrics I, University of Heidelberg, Heidelberg, Germany.

Kai-Christian Thiemann (KC)

Center for Child and Adolescent Medicine, Department Pediatrics I, University of Heidelberg, Heidelberg, Germany.

Georg F Hoffmann (GF)

Center for Child and Adolescent Medicine, Department Pediatrics I, University of Heidelberg, Heidelberg, Germany.

Irmgard Sinning (I)

Biochemistry Center (BZH), Heidelberg University, Heidelberg, Germany.

Thierry Dupré (T)

Department Biochimie, AP-HP, Hôpital Bichat, Biochimie, Paris, France.
Faculté de Médecine Xavier Bichat, INSERM U1149, Université Paris Diderot, Paris, France.

Sandrine Vuillaumier-Barrot (S)

Department Biochimie, AP-HP, Hôpital Bichat, Biochimie, Paris, France.
Faculté de Médecine Xavier Bichat, INSERM U1149, Université Paris Diderot, Paris, France.

Catherine Barrey (C)

Pédiatrie, Hôpital Sainte Camille, Bry-sur-Marne, France.

Jonas Denecke (J)

Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

Wolfgang Kölfen (W)

Zentrum für Kinder und Jugendmedizin, Städtischen Kliniken Mönchengladbach, Mönchengladbach, Germany.

Gesche Düker (G)

Department of Pediatrics, Children's Hospital Medical Center, University Hospitals Bonn, Bonn, Germany.

Rainer Ganschow (R)

Department of Pediatrics, Children's Hospital Medical Center, University Hospitals Bonn, Bonn, Germany.

Michael J Lentze (MJ)

Department of Pediatrics, Children's Hospital Medical Center, University Hospitals Bonn, Bonn, Germany.

Stuart Moore (S)

Faculté de Médecine Xavier Bichat, INSERM U1149, Université Paris Diderot, Paris, France.

Nathalie Seta (N)

Department Biochimie, AP-HP, Hôpital Bichat, Biochimie, Paris, France.

Andreas Ziegler (A)

Center for Child and Adolescent Medicine, Department Pediatrics I, University of Heidelberg, Heidelberg, Germany.

Christian Thiel (C)

Center for Child and Adolescent Medicine, Department Pediatrics I, University of Heidelberg, Heidelberg, Germany.
ORCID: 0000-0001-6419-8747

Articles similaires

[Redispensing of expensive oral anticancer medicines: a practical application].

Lisanne N van Merendonk, Kübra Akgöl, Bastiaan Nuijen
1.00
Humans Antineoplastic Agents Administration, Oral Drug Costs Counterfeit Drugs

Smoking Cessation and Incident Cardiovascular Disease.

Jun Hwan Cho, Seung Yong Shin, Hoseob Kim et al.
1.00
Humans Male Smoking Cessation Cardiovascular Diseases Female

Evaluation of Low-Value Services Across Major Medicare Advantage Insurers and Traditional Medicare.

Ciara Duggan, Adam L Beckman, Ishani Ganguli et al.
1.00
Humans United States Aged Cross-Sectional Studies Medicare Part C

Effectiveness of Virtual Yoga for Chronic Low Back Pain: A Randomized Clinical Trial.

Hallie Tankha, Devyn Gaskins, Amanda Shallcross et al.
1.00
Humans Yoga Low Back Pain Female Male

Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Novel variants and clinical symptoms in four...
questionsmedicales.fr › Cellules › Cellules du tissu conjonctif › Fibroblastes › Cellules COS › Novel variants and clinical symptoms in four...
questionsmedicales.fr › Cellules › Cellules cultivées › Novel variants and clinical symptoms in four...
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Enfant d'âge préscolaire › Novel variants and clinical symptoms in four...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Cercopithecidae › Cercopithecinae › Cercopithecus › Cercopithecus aethiops › Novel variants and clinical symptoms in four...
questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Erreurs innées du métabolisme › Erreurs innées du métabolisme glucidique › Troubles congénitaux de la glycosylation › Novel variants and clinical symptoms in four...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Novel variants and clinical symptoms in four...
questionsmedicales.fr › Personnes › Tranches d'âge › Nourrisson › Novel variants and clinical symptoms in four...
questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Transferases › Glycosyltransferase › Hexosyltransferases › Mannosyltransferases › Novel variants and clinical symptoms in four...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Novel variants and clinical symptoms in four...
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Composants de génome › Gènes › Composants de gène › Cadres ouverts de lecture › Novel variants and clinical symptoms in four...
questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Hydrolases › Amidohydrolases › Peptide-N4-(N-acetyl-beta-glucosaminyl) asparagine amidase › Novel variants and clinical symptoms in four...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Polymorphisme génétique › Polymorphisme de nucléotide simple › Novel variants and clinical symptoms in four...