Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 20-10-2010
Symbol SCNP4
Location 17q21.31
Name severe congenital neutropenia 4
Other name(s) includes Dursun syndrome (MIM 613034)
Corresponding gene G6PC3
Other symbol(s) SCN4
Main clinical features
  • severe congenital neutropenia, cardiac abnormalities, and a prominent superficial venous pattern
  • extended hematological spectrum includes monocytosis, anaemia, lymphopenia, erythroid hypoplasia and myeloid dysplasia
  • other additional findings comprise thymus hypoplasia, primary pulmonary hypertension varicose veins and venous ulcers in adults, poor growth of prenatal onset, delayed or incomplete puberty and hypothyroidism (Banka 2010)
  • Genetic determination autosomal recessive
    Function/system disorder defense and immunity
    multisystem/generalized
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     c.758G>A (p.R253H) in exon 6 in 4 patients with SCN4
    missense     c.346A>G (p.M116V in a family with Dursun syndrome
    Remark(s)
    Genotype/Phenotype correlations extended phenotype include Dursun syndrome, a triad of familial pulmonary hypertension, atrial septal defect and leucopenia