Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3.

ABSTRACT: Severe congenital neutropenia type 4 (SCN4) is an autosomal recessive condition, which was defined recently with identification of the causative mutations in G6PC3. To date there are only three reports in the literature describing patients with SCN4 with mutations in the G6PC3 gene. We report four individuals with SCN4 who belong to a single large consanguineous kindred. We provide an overview of the non-haematological features of the condition with a focus on the adult phenotype, which has not been previously described in detail. We show that the superficial venous changes seen in SCN4 patients can develop into varicose veins and venous ulcers in adulthood. We review the range of congenital anomalies associated with SCN4. We demonstrate that secundum atrial septal defect, patent ductus ar

SUBMITTER: Banka S 

PROVIDER: S-EPMC3039503 | biostudies-literature | 2011 Jan

REPOSITORIES: biostudies-literature