We found a match
Your institution may have rights to this item. Sign in to continue.
- Title
A Novel PGM3 Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure, Severe Combined Immunodeficiency, Skeletal Dysplasia, and Congenital Malformations.
- Authors
Pacheco-Cuéllar, Guillermo; Lachance, Christian; Lemire-Girard, Marlène; Decaluwe, Hélène; Duval, Michel; Haddad, Élie; Campeau, Philippe M; Gauthier, Julie; Désilets, Valérie; Rypens, Françoise; Le Deist, Françoise; Bouron-Dal Soglio, Dorothée; Kokta, Victor
- Abstract
ABSTRACT Congenital disorders of glycosylation (CDGs) affect multiple systems and present a broad spectrum of clinical features, often including skeletal dysplasia. Exome sequencing has led to the identification of new CDG genes. Immune and skeletal phenotypes associated with mutations in PGM3, encoding a protein that converts N-acetyl-glucosamine-6-phosphate into N-acetyl-glucosamine-1-phosphate, were recently reported. Through exome sequencing, we identified a novel homozygous mutation (c.1135T>C; p.Phe379Leu) in PGM3 in two siblings with bone marrow failure, severe combined immunodeficiency, renal and intestinal malformations, and a skeletal dysplasia resembling Desbuquois dysplasia. Severe respiratory compromise secondary to lung hypoplasia and pulmonary hypertension, and intestinal obstruction led to their demise. We thus report the most severe phenotype described so far associated with PGM3 mutations. This CDG should be considered in the presence of skeletal dysplasia associated with severe immunodeficiency. © 2017 American Society for Bone and Mineral Research.
- Subjects
GLYCOSYLATION; BONE marrow; CONGENITAL disorders
- Publication
Journal of Bone & Mineral Research, 2017, Vol 32, Issue 9, p1853
- ISSN
0884-0431
- Publication type
Article
- DOI
10.1002/jbmr.3173