DMP1-CDG (CDG1e) with Significant Gastrointestinal Manifestations; Phenotype and Genotype Expansion

Abstract

The literature describes eight cases of mutations in the DPM1 gene generating DMP1-CDG, causing similar phenotype of early onset seizures, microcephaly and developmental delay. Investigations of these patients revealed associated abnormal findings on brain imaging, elevated CK, abnormal clotting factors and mildly deranged serum transaminases. We describe the ninth case of DMP1-CDG, whose clinical presentation includes severe gastrointestinal involvement, i.e. food protein induced enterocolitis syndrome (FPIES). Gastrointestinal manifestations (GIT) of the congenital glycosylation disorders have included deranged liver function, hepatomegaly, liver fibrosis, steatosis and protein-losing enteropathy. This is the first report of a congenital glycosylation disorder being associated with FPIES.J Biotechnol. 1996 Apr 18;46(1):1-14. (PMID: 8672282); Mol Genet Metab. 2013 Nov;110(3):345-351. (PMID: 23856421); J Inherit Metab Dis. 2004;27(5):591-600. (PMID: 15669674); Pediatr Res. 1984 Aug;18(8):751-5. (PMID: 6540862); Curr Opin Allergy Clin Immunol. 2014 Jun;14(3):217-21. (PMID: 24651279); Orphanet J Rare Dis. 2015 Jun 12;10:73. (PMID: 26066342); J Pediatr Gastroenterol Nutr. 1998 Jul;27(1):23-9. (PMID: 9669722); Curr Opin Allergy Clin Immunol. 2014 Jun;14(3):246-54. (PMID: 24739227); Pediatr Res. 2006 Jun;59(6):835-9. (PMID: 16641202); J Clin Invest. 2000 Jan;105(2):191-8. (PMID: 10642597); Hum Pathol. 2007 Nov;38(11):1714-9. (PMID: 17954208); EMBO J. 2000 Jun 1;19(11):2475-82. (PMID: 10835346); Expert Rev Clin Immunol. 2013 Aug;9(8):707-15. (PMID: 23971749); J Pediatr Gastroenterol Nutr. 2004 Mar;38(3):282-7. (PMID: 15076627); Ann Neurol. 2012 Oct;72(4):550-8. (PMID: 23109149); Biochim Biophys Acta. 2006 Apr;1760(4):547-59. (PMID: 16380211); Dev Biol Stand. 1992;76:83-94. (PMID: 1478359); Glycobiology. 2001 May;11(5):61R-70R. (PMID: 11425794); J Allergy Clin Immunol. 2011 Mar;127(3):647-53.e1-3. (PMID: 21377033); J Biol Chem. 2006 Jan 13;281(2):896-904. (PMID: 16280320); Am J Hum Genet. 2009 Jul;85(1):76-86. (PMID: 19576565); Expert Rev Clin Immunol. 2011 May;7(3):317-27. (PMID: 21595598); J Inherit Metab Dis. 2014 Jul;37(4):609-17. (PMID: 24831587); Am J Med Genet A. 2007 Jun 15;143A(12):1371-8. (PMID: 17506107); Am J Med Genet A. 2007 Sep 1;143A(17):2029-34. (PMID: 17663480); J Clin Invest. 2000 Jan;105(2):233-9. (PMID: 10642602); J Pediatr Gastroenterol Nutr. 2000;30 Suppl:S45-9. (PMID: 10634298). Linking ISSN: 21928304. Subset: PubMed not MEDLINE; Date of Electronic Publication: 2016 Aug 02. Current Imprints: Publication: 2019- : [Hoboken, NJ] : Wiley; Original Imprints: Publication: Berlin : SSIEM and Springer-Verlag, c2011. <br />