What’s new on Pubmed about CDG?

Source : This section is extracted from the CDG Christmas Newsletter 2015 (Portuguese Association for CDG (APCDG).

Genetics
Grahn A, Bengtson P, Eklund E, Asin-Cayuela J. A novel mutation on the transferrin gene abolishes one N-glycosylation site and alters the pattern of transferrin isoforms, mimicking that observed after excessive alcohol consumption.Clin Biochem. 2015 Dec 4.

Clinical research
Park JH, Hogrebe M, Grüneberg M, DuChesne I, von der Heiden AL, Reunert J, Schlingmann KP, Boycott KM, Beaulieu CL, Mhanni AA, Innes AM, Hörtnagel K, Biskup S, Gleixner EM, Kurlemann G, Fiedler B, Omran H, Rutsch F, Wada Y, Tsiakas K, Santer R, Nebert DW, Rust S, Marquardt T. SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation. Am J Hum Genet. 2015 Dec 3;97(6):894-903.

Climer LK, Dobretsov M, Lupashin V. Defects in the COG complex and COG-related trafficking regulators affect neuronal Golgi function. Front Neurosci. 2015 Oct 27;9:405.  2015. Review.

Serrano M, de Diego V, Muchart J, Cuadras D, Felipe A, Macaya A, Velázquez R, Poo MP, Fons C, O'Callaghan MM, García-Cazorla A, Boix C, Robles B, Carratalá F, Girós M, Briones P, Gort L, Artuch R, Pérez-Cerdá C, Jaeken J, Pérez B, Pérez-Dueñas B. Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment. Orphanet J Rare Dis.

Lundin KE, Hamasy A, Backe PH, Moens LN, Falk-Sörqvist E, Elgstøen KB, Mørkrid L, Bjørås M, Granert C, Norlin AC, Nilsson M, Christensson B, Stenmark S, Smith CI. Susceptibility to infections, without concomitant hyper-IgE, reported in 1976, is caused by hypomorphic mutation in the phosphoglucomutase 3 (PGM3) gene. Clin Immunol. 2015 Dec;161(2):366-72.

AlSubhi S, AlHashem A, AlAzami A, Tlili K, AlShahwan S, Lefeber D, Alkuraya FS, Tabarki B. Further Delineation of the ALG9-CDG Phenotype. JIMD Rep. 2015 Oct 10.

Fiumara A, Barone R, Del Campo G, Striano P, Jaeken J. Electroclinical Features of Early-Onset Epileptic Encephalopathies in Congenital Disorders of Glycosylation (CDGs). JIMD Rep. 2015 Oct 10.

Therapeutic Approaches
Andreotti G, Monti MC, Citro V, Cubellis MV. Heterodimerization of Two Pathological Mutants Enhances the Activity of Human Phosphomannomutase2. PLoS One. 2015 Oct 21;10(10):e0139882.

Diagnostic Approaches
Saldova R, Stöckmann H, O'Flaherty R, Lefeber DJ, Jaeken J, Rudd PM. N-Glycosylation of Serum IgG and Total Glycoproteins in MAN1B1 Deficiency. J Proteome Res. 2015 Oct 2;14(10):4402-12.

Zhang W, James PM, Ng BG, Li X, Xia B, Rong J, Asif G, Raymond K, Jones MA, Hegde M, Ju T, Cummings RD, Clarkson K, Wood T, Boerkoel CF, Freeze HH, He M. A Novel N-Tetrasaccharide in Patients with Congenital Disorders of Glycosylation Including Asparagine-Linked Glycosylation Protein 1, Phosphomannomutase 2, and Phosphomannose Isomerase Deficiencies. Clin Chem. 2015 Oct 1.

Patient management
A Medical guideline for the diagnosis and treatment of CDG patients was recently published by Dr Celia Pérez-Cerdá, Dr Marisa Girós, Dr Mercedes Serrano and Dr Belén Pérez Dueñas.
The document is freely accessible. It can be downloaded from the following link:
https://www.rarecommons.org/files/images/imce/CDG/protocolo_cdg.pdf