Molecular and Clinical Characterization of a Founder Mutation Causing G6PC3 Deficiency.

doi:10.1007/s10875-024-01836-0

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Article

Molecular and Clinical Characterization of a Founder Mutation Causing G6PC3 Deficiency.

Journal of clinical immunology - 4 Dec 2024

Zhen Xin, Betti Michael J, Kars Meltem Ece, Patterson Andrew R, Medina-Torres Edgar Alejandro, Scheffler Mendoza Selma Cecilia, Herrera Sánchez Diana Andrea, Lopez-Herrera Gabriela, Svyryd Yevgeniya, Mutchinick Osvaldo M, Gamazon Eric R, Rathmell Jeffrey C, Itan Yuval, Markle Janet, O'Farrill Romanillos Patricia, Lugo-Reyes Saul Oswaldo, Martinez-Barricarte Ruben

Abstract excerpt

G6PC3 deficiency is a monogenic immunometabolic disorder that causes severe congenital neutropenia type 4. Patients display heterogeneous extra-hematological manifestations, contributing to delayed diagnosis. Here, we investigated the origin and functional consequence of the G6PC3 c.210delC variant found in patients of Mexican descent. Based on the shared haplotypes amongst mutation carriers, we estimated that...

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Identifiers

PMID: 39630167
DOI: 10.1007/s10875-024-01836-0
PMCID: PMC11618172

Genes

G6PC3

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