Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia.

doi:10.1016/j.jpeds.2011.09.019

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Article

Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia.

The Journal of pediatrics - 1 Apr 2012

Boztug Kaan, Rosenberg Philip S, Dorda Marie, Banka Siddharth, Moulton Thomas, Curtin Julie, Rezaei Nima, Corns John, Innis Jeffrey W, Avci Zekai, Tran Hung Chi, Pellier Isabelle, Pierani Paolo, Fruge Rachel, Parvaneh Nima, Mamishi Setareh, Mody Rajen, Darbyshire Phil, Motwani Jayashree, Murray Jennie, Buchanan George R, Newman William G, Alter Blanche P, Boxer Laurence A, Donadieu Jean, Welte Karl, Klein Christoph

Abstract excerpt

OBJECTIVE: To delineate the phenotypic and molecular spectrum of patients with a syndromic variant of severe congenital neutropenia (SCN) due to mutations in the gene encoding glucose-6-phosphatase catalytic subunit 3 (G6PC3). STUDY DESIGN: Patients with syndromic SCN were characterized for associated malformations and referred to us for G6PC3 mutational analysis. RESULTS: In a cohort of 31 patients with...

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PMID: 22050868
DOI: 10.1016/j.jpeds.2011.09.019

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