Congenital disorders of glycosylation (CDG): it's (nearly) all in it!

被引：96

作者：

Jaeken, Jaak ^{[1
]}

机构：

[1] Univ Ziekenhuis Gasthuisberg, B-3000 Leuven, Belgium

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 2011年 / 34卷 / 04期

关键词：

AUTOSOMAL RECESSIVE SYNDROME; CUTIS LAXA; MENTAL-RETARDATION; MUTATIONS; DEFICIENCY; NOMENCLATURE; PHENOTYPE; DEFECT; LEADS; GENE;

D O I：

10.1007/s10545-011-9299-3

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Congenital disorders of glycosylation (CDG) is a booming class of metabolic diseases. Its number has increased nearly fourfold (to 45) since 2003, the year of the Komrower lecture, entitled 'Congenital disorders of glycosylation CDG): It's all in it!'. This paper presents an overview of recently discovered CDG and CDG phenotypes, of a diagnostic approach, of (the lack of) treatment, of CDG genetics, of a novel CDG nomenclature and classification, and of some future directions in the CDG field.

引用

页码：853 / 858

页数：6

共 35 条

[1] A new autosomal recessive syndrome of ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities in an inbred Emirati family [J].

Al-Gazali, L. ;

Hertecant, J. ;

Algawi, K. ;

El Teraifi, H. ;

Dattani, M. .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2008, 146A (07) :813-819

[2] Inherited glycosylphosphatidyl inositol deficiency: A treatable CDG [J].

Almeida, Antonio ;

Layton, Mark ;

Karadimitris, Anastasios .

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, 2009, 1792 (09) :874-880

[3] Congenital Dyserythropoietic Anemia Type II (CDAII) is Caused by Mutations in the SEC23B Gene [J].

Bianchi, Paola ;

Fermo, Elisa ;

Vercellati, Cristina ;

Boschetti, Carla ;

Barcellini, Wilma ;

Iurlo, Alessandra ;

Marcello, Anna Paola ;

Righetti, Pier Giorgio ;

Zanella, Alberto .

HUMAN MUTATION, 2009, 30 (09) :1292-1298

[4] SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder [J].

Cantagrel, Vincent ;

Lefeber, Dirk J. ;

Ng, Bobby G. ;

Guan, Ziqiang ;

Silhavy, Jennifer L. ;

Bielas, Stephanie L. ;

Lehle, Ludwig ;

Hombauer, Hans ;

Adamowicz, Maciej ;

Swiezewska, Ewa ;

De Brouwer, Arjan P. ;

Bluemel, Peter ;

Sykut-Cegielska, Jolanta ;

Houliston, Scott ;

Swistun, Dominika ;

Ali, Bassam R. ;

Dobyns, William B. ;

Babovic-Vuksanovic, Dusica ;

van Bokhoven, Hans ;

Wevers, Ron A. ;

Raetz, Christian R. H. ;

Freeze, Hudson H. ;

Morava, Eva ;

Al-Gazali, Lihadh ;

Gleeson, Joseph G. .

CELL, 2010, 142 (02) :203-217

[5] The clinical spectrum of phosphomannose isomerase deficiency, with an evaluation of mannose treatment for CDG-Ib [J].

de Lonlay, P. ;

Seta, N. .

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, 2009, 1792 (09) :841-843

[6] Congenital dyserythropoietic anemia type II (CDAII/HEMPAS): Where are we now? [J].

Denecke, Jonas ;

Marquardt, Thorsten .

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, 2009, 1792 (09) :915-920

[7] COG defects, birth and rise! [J].

Foulquier, Francois .

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, 2009, 1792 (09) :896-902

[8]

FRANK CG, 2008, NATURE, V415, P447

[9] Leukocyte Adhesion Deficiency Type II: Long-Term Follow-Up and Review of the Literature [J].

Gazit, Yael ;

Mory, Adi ;

Etzioni, Amos ;

Frydman, Moshe ;

Scheuerman, Oded ;

Gershoni-Baruch, Ruth ;

Garty, Ben-Zion .

JOURNAL OF CLINICAL IMMUNOLOGY, 2010, 30 (02) :308-313

[10] Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa [J].

Guillard, Mailys ;

Dimopoulou, Aikaterini ;

Fischer, Bjoern ;

Morava, Eva ;

Lefeber, Dirk J. ;

Kornak, Uwe ;

Wevers, Ron A. .

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, 2009, 1792 (09) :903-914

← 1 2 3 4 →