Darsun syndrome

Definition:

G6PC3 deficiency is a syndromic variant of severe congenital neutropenia associated by complex organ malformation. Patients often have cardiac defects such as atrial septal defects, an increased superficial venous marking, and urogenital malformations. In the absence of G6PC3, increased ER stress makes neutrophils prone to undergo apoptosis and leads to defective organ development.

References:

[1]. Christoph Klein, et al. Genetic defects in severe congenital neutropenia: emerging insights into life and death of human neutrophil granulocytes. Annu Rev Immunol. 2011;29:399-413. [Content Brief]

[2]. Christoph Klein, et al. Genetic insights into congenital neutropenia. Clin Rev Allergy Immunol. 2010 Feb;38(1):68-74. [Content Brief]

[3]. Kaan Boztug, et al. A syndrome with congenital neutropenia and mutations in G6PC3. N Engl J Med. 2009 Jan 1;360(1):32-43. [Content Brief]

[4]. Kaan Boztug, et al. Genetic etiologies of severe congenital neutropenia. Curr Opin Pediatr. 2011 Feb;23(1):21-6. [Content Brief]

[5]. Kaan Boztug, et al. Novel genetic etiologies of severe congenital neutropenia. Curr Opin Immunol. 2009 Oct;21(5):472-80. [Content Brief]

[6]. Siddharth Banka, et al. Mutations in the G6PC3 gene cause Dursun syndrome. Am J Med Genet A. 2010 Oct;152A(10):2609-11. [Content Brief]

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