What is new in CDG?

Jaeken, Jaak; Péanne, Romain

doi:10.1007/s10545-017-0050-6

Cited by 133 publications

(132 citation statements)

References 84 publications

Supporting

Mentioning

123

Contrasting

Unclassified

Order By: Relevance

“…PMM2‐CDG is the most frequent CDG. Other forms of CDG found in our review include ALG8‐CDG (OMIM#608104), caused by the deficiency of glucosyltransferase II, ALG1‐CDG (OMIM #608540) caused by the deficiency of mannosyltransferase I, ALG9‐CDG (OMIM #608776) caused by deficiency of an α‐1,2‐mannosyltransferase, MGAT2‐CDG caused by N‐acetylglucosaminyltransferase II deficiency, and COG6‐CDG (OMIM #606977), caused by a deficiency in the conserved oligomeric Golgi (COG) complex subunit 6, which plays a key role in protein transport between endoplasmic reticulum and Golgi and within the Golgi …”

Section: Discussionmentioning

confidence: 89%

Nonimmune hydrops fetalis and congenital disorders of glycosylation: A systematic literature review

Makhamreh

Cottingham

Ferreira

et al. 2019

J of Inher Metab Disea

View full text Add to dashboard Cite

Numerous etiologies may lead to nonimmune hydrops fetalis (NIHF) including congenital disorders of glycosylation (CDG). Recognition of CDG in NIHF is challenging. This study reviews prenatal and neonatal characteristics of CDG presenting with NIHF. A systematic literature search was performed. Thirteen articles met the inclusion criteria. Twenty‐one cases with NIHF associated with a CDG were reported. There were 17 live births, three pregnancy terminations, and one fetal demise. Timing of CDG diagnosis was reported mostly postnatally (90%; 10/11). Postnatal genetic testing was reported in 18 patients; three patients were diagnosed by isoelectric focusing of serum transferrin that showed a type 1 pattern. The genes reported for CDG with NIHF for 15 distinct families include: PMM2 in 47% (7/15), ALG9 in 20% (3/15), ALG8 in 13% (2/15), ALG1 in 7% (1/15), MGAT2 in 7% (1/15), and COG6 7% (1/15). In our review, 81% (17/21) reported facial dysmorphism, 52% (11/21) reported CNS abnormalities, most commonly cerebellar atrophy (64%; 7/11), and 38% (8/21) reported cardiovascular abnormalities, most commonly hypertrophic cardiomyopathy (63%; 5/8). Among live births, 71% (12/17) infants died at a median age of 34 days (range 1‐185). Thrombocytopenia was reported in 53% (9/17) patients. Of those who survived past the neonatal period, 80% (4/5) had significant reported developmental delays. CDG should be on the differential diagnosis of NIHF in the presence of cerebellar atrophy, hypertrophic cardiomyopathy, or thrombocytopenia. Our review highlights the poor prognosis in infants with NIHF due to CDG and demonstrates the importance of identifying these disorders prenatally to guide providers in their counseling with families regarding pregnancy management. Synopsis Poor prognosis in fetuses and infants with nonimmune hydrops fetalis due to congenital disorders of glycosylation highlights the importance of prenatal diagnosis of this disorder.

show abstract

Section: Discussionmentioning

confidence: 89%

Nonimmune hydrops fetalis and congenital disorders of glycosylation: A systematic literature review

Makhamreh

Cottingham

Ferreira

et al. 2019

J of Inher Metab Disea

View full text Add to dashboard Cite

show abstract

“…CDG‐I defects are located in the assembly of the lipid linked oligosaccharide (LLO) glucose 3 mannose 9 N ‐acetylglucosamine 2 ‐PP‐dolichol (Glc 3 Man 9 GlcNAc 2 ‐PP‐Dol) or the transfer of its oligosaccharide to proteins in the endoplasmic reticulum (ER). CDG‐I leads to multiorgan phenotypes, including disorders of the brain and neuromuscular system, hepatopathy, skin, and skeletal abnormalities …”

Section: Introductionmentioning

confidence: 99%

A mutation in mannose‐phosphate‐dolichol utilization defect 1 reveals clinical symptoms of congenital disorders of glycosylation type I and dystroglycanopathy

et al. 2019

View full text Add to dashboard Cite

Congenital disorders of glycosylation type I (CDG‐I) are inborn errors of metabolism, generally characterized by multisystem clinical manifestations, including developmental delay, hepatopathy, hypotonia, and skin, skeletal, and neurological abnormalities. Among others, dolichol‐phosphate‐mannose (DPM) is the mannose donor for N‐glycosylation as well as O‐mannosylation. DOLK‐CDG, DPM1‐CDG, DPM2‐CDG, and DPM3‐CDG are defects in the DPM synthesis showing both CDG‐I abnormalities and reduced O‐mannosylation of alpha‐dystroglycan (αDG), which leads to muscular dystrophy‐dystroglycanopathy. Mannose‐phosphate‐dolichol utilization defect 1 (MPDU1) plays a role in the utilization of DPM. Here, we report two MPDU1‐CDG patients without skin involvement, but with massive dilatation of the biliary duct system and dystroglycanopathy characteristics including hypotonia, elevated creatine kinase, dilated cardiomyopathy, buphthalmos, and congenital glaucoma. Biochemical analyses revealed elevated disialotransferrin in serum, and analyses in fibroblasts showed shortened lipid linked oligosaccharides and DPM, and reduced O‐mannosylation of αDG. Thus, MPDU1‐CDG can be added to the list of disorders with overlapping biochemical and clinical abnormalities of CDG‐I and dystroglycanopathy. Synopsis Mannose‐phosphate‐dolichol utilization defect 1 patients can have overlapping biochemical and clinical abnormalities of congenital disorders of glycosylation type I and dystroglycanopathy.

show abstract

“…Recessive mutations cause a range of phenotypes via abnormal O-glycosylation of α-dystroglycan, which reduces binding to extracellular matrix proteins 54–56. Three forms of muscular dystrophy-dystroglycanopathy have been attributed to FKTN : the most severe congenital form with structural brain and eye anomalies (MDDGA4; MIM 253800); a less severe congenital form without mental disability (MDDGB4; MIM 613152); and the milder limb-girdle form (MDDGC4; MIM 611588) 55. Dilated cardiomyopathy with adult-onset muscle weakness and normal cognition has also been described (dilated cardiomyopathy 1X; MIM 611615) 57.…”

Section: Genes Encoding Adult Skeletal Muscle Proteinsmentioning

confidence: 99%

Genetics of neuromuscular fetal akinesia in the genomics era

et al. 2018

View full text Add to dashboard Cite

Fetal hypokinesia or akinesia encompasses a broad spectrum of disorders, united by impaired movement in utero. Often, the underlying aetiology is genetic in origin, affecting part of the neuromuscular system. The affordable and high-throughput nature of next-generation DNA sequencing has led to an explosion in disease gene discovery across rare diseases, including fetal akinesias. A genetic diagnosis has clinical utility as it may affect management and prognosis and informs recurrence risk, facilitating family planning decisions. More broadly, knowledge of disease genes increasingly allows population-based preconception carrier screening, which has reduced the incidence of recessive diseases in several populations. Despite gains in knowledge of the genetics of fetal akinesia, many families lack a genetic diagnosis. In this review, we describe the developments in Mendelian genetics of neuromuscular fetal akinesia in the genomics era. We examine genetic diagnoses with neuromuscular causes, specifically including the lower motor neuron, peripheral nerve, neuromuscular junction and muscle.

show abstract

What is new in CDG?

Cited by 133 publications

References 84 publications

Nonimmune hydrops fetalis and congenital disorders of glycosylation: A systematic literature review

Nonimmune hydrops fetalis and congenital disorders of glycosylation: A systematic literature review

A mutation in mannose‐phosphate‐dolichol utilization defect 1 reveals clinical symptoms of congenital disorders of glycosylation type I and dystroglycanopathy

Genetics of neuromuscular fetal akinesia in the genomics era

Contact Info

Product

Resources

About