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A Novel PGM3 Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure, Severe Combined Immunodeficiency, Skeletal Dysplasia, and Congenital Malformations by Guillermo Pacheco‐Cuéllar; Julie Gauthier; Valérie Désilets; Christian Lachance; Marlène Lemire‐Girard; Françoise Rypens; Françoise Le Deist; Hélène Decaluwe; Michel Duval; Dorothée Bouron‐Dal Soglio; Victor Kokta; Élie Haddad; Philippe M Campeau is a Medicine article available to read on EtoBox.

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## 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.

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Author

Guillermo Pacheco‐Cuéllar; Julie Gauthier; Valérie Désilets; Christian Lachance; Marlène Lemire‐Girard; Françoise Rypens; Françoise Le Deist; Hélène Decaluwe; Michel Duval; Dorothée Bouron‐Dal Soglio; Victor Kokta; Élie Haddad; Philippe M Campeau

Publisher

Wiley

Published

2017

Language

EN

Field

Medicine (Health Sciences)