Literature DB >> 16435218

Congenital disorder of glycosylation (CDG) Ig: report on a patient and review of the literature.

M Di Rocco1, T Hennet, C E Grubenmann, S Pagliardini, A E M Allegri, C G Frank, M Aebi, S Vignola, J Jaeken.   

Abstract

We report a new patient with CDG Ig and review the five other known patients. From the data on this small number of patients, it seems that the association of psychomotor retardation, male hypogenitalism and decreased serum IgG in a patient with a type 1 pattern of serum sialotransferrins might be a clue to the diagnosis of CDG Ig.

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Year:  2005        PMID： 16435218     DOI： 10.1007/s10545-005-0137-3

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  5 in total

1.  Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase.

Authors:  Isabelle Chantret; Thierry Dupré; Christophe Delenda; Stéphanie Bucher; Julia Dancourt; Anne Barnier; Aude Charollais; Delphine Heron; Brigitte Bader-Meunier; Olivier Danos; Nathalie Seta; Geneviève Durand; Rafael Oriol; Patrice Codogno; Stuart E H Moore
Journal:  J Biol Chem       Date:  2002-04-30       Impact factor: 5.157

2.  Molecular and clinical description of the first US patients with congenital disorder of glycosylation Ig.

Authors:  Erik A Eklund; John W Newell; Liangwu Sun; Neung-Seon Seo; Gulay Alper; Jessica Willert; Hudson H Freeze
Journal:  Mol Genet Metab       Date:  2004-11-11       Impact factor: 4.797

3.  Abnormal glycosylation of red cell membrane band 3 in the congenital disorder of glycosylation Ig.

Authors:  Ewa Zdebska; Brigitte Bader-Meunier; Pierre-Olivier Schischmanoff; Thierry Dupré; Nathalie Seta; Gil Tchernia; Jerzy Kościelak; Jean Delaunay
Journal:  Pediatr Res       Date:  2003-05-07       Impact factor: 3.756

4.  Deficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type Ig.

Authors:  Christian Thiel; Markus Schwarz; Martin Hasilik; Ulrike Grieben; Folker Hanefeld; Ludwig Lehle; Kurt von Figura; Christian Körner
Journal:  Biochem J       Date:  2002-10-01       Impact factor: 3.857

5.  ALG12 mannosyltransferase defect in congenital disorder of glycosylation type lg.

Authors:  Claudia E Grubenmann; Christian G Frank; Susanne Kjaergaard; Eric G Berger; Markus Aebi; Thierry Hennet
Journal:  Hum Mol Genet       Date:  2002-09-15       Impact factor: 6.150
  5 in total
  7 in total

Review 1.  The chemical neurobiology of carbohydrates.

Authors:  Heather E Murrey; Linda C Hsieh-Wilson
Journal:  Chem Rev       Date:  2008-05-02       Impact factor: 60.622

2.  ALG12-CDG: novel glycophenotype insights endorse the molecular defect.

Authors:  Luisa Sturiale; Sebastiano Bianca; Domenico Garozzo; Alessandra Terracciano; Emanuele Agolini; Angela Messina; Angelo Palmigiano; Francesca Esposito; Chiara Barone; Antonio Novelli; Agata Fiumara; Jaak Jaeken; Rita Barone
Journal:  Glycoconj J       Date:  2019-09-16       Impact factor: 2.916

Review 3.  Immunological aspects of congenital disorders of glycosylation (CDG): a review.

Authors:  Maria Monticelli; Tiago Ferro; Jaak Jaeken; Vanessa Dos Reis Ferreira; Paula A Videira
Journal:  J Inherit Metab Dis       Date:  2016-07-08       Impact factor: 4.750

4.  A novel homozygous mutation in the human ALG12 gene results in an aberrant profile of oligomannose N-glycans in patient's serum.

Authors:  Jana Ziburová; Marek Nemčovič; Sergej Šesták; Jana Bellová; Zuzana Pakanová; Barbara Siváková; Anna Šalingová; Claudia Šebová; Mária Ostrožlíková; Dimitra-Evanthia Lekka; Jana Brucknerová; Ingrid Brucknerová; Martina Skokňová; Alexandra Mc Cullough; Gabriela Hrčková; Anna Hlavatá; Vladimír Bzdúch; Ján Mucha; Peter Baráth
Journal:  Am J Med Genet A       Date:  2021-09-01       Impact factor: 2.578

5.  Congenital protein hypoglycosylation diseases.

Authors:  Susan E Sparks
Journal:  Appl Clin Genet       Date:  2012-07-05

6.  Congenital disorder of glycosylation type Ix: review of clinical spectrum and diagnostic steps.

Authors:  E Morava; H Wosik; J Kárteszi; M Guillard; M Adamowicz; J Sykut-Cegielska; K Hadzsiev; R A Wevers; D J Lefeber
Journal:  J Inherit Metab Dis       Date:  2008-05-20       Impact factor: 4.750

7.  ALG12-CDG: An unusual patient without intellectual disability and facial dysmorphism, and with a novel variant.

Authors:  María Eugenia de la Morena-Barrio; María Sabater; Belén de la Morena-Barrio; Renee L Ruhaak; Antonia Miñano; José Padilla; Mara Toderici; Vanessa Roldán; Juan R Gimeno; Vicente Vicente; Javier Corral
Journal:  Mol Genet Genomic Med       Date:  2020-06-12       Impact factor: 2.183
  7 in total

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