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BioMed Central, Orphanet Journal of Rare Diseases, 1(9), 2014

DOI: 10.1186/s13023-014-0183-8

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Clinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French severe congenital neutropenia registry

Journal article published in 2014 by Claire Desplantes, Marie-Louise Fremond, Blandine Beaupain, Jean Luc Harousseau, Agnès Buzyn, Gaelle Roques, Isabelle Pellier, Pierre Morville, Catherine Paillard, Lucile Pinson, Julie Bruneau ORCID, Jean-Pierre Vannier, Eric Jeziorski ORCID, Capucine Picard ORCID, Florence Bellanger and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

Abstract Background The purpose of this study was to describe the natural history of severe congenital neutropenia (SCN) in 14 patients with G6PC3 mutations and enrolled in the French SCN registry. Methods Among 605 patients included in the French SCN registry, we identified 8 pedigrees that included 14 patients with autosomal recessive G6PC3 mutations. Results Median age at the last visit was 22.4 years. All patients had developed various comordibities, including prominent veins (n = 12), cardiac malformations (n = 12), intellectual disability (n = 7), and myopathic syndrome with recurrent painful cramps (n = 1). Three patients developed Crohn’s disease, and five had chronic diarrhea with steatorrhea. Neutropenia was profound ( A /p.Trp83*) was detected in one pedigree. Conclusions Severe congenital neutropenia with autosomal recessive G6PC3 mutations is associated with considerable clinical heterogeneity. This series includes the first described case of malignancy in this neutropenia.