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Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3
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Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3
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Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3
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Journal Article
Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3
2011
Overview
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 arteriosus and valvular defects are the most frequent cardiac anomalies in SCN4. Drawing parallels with type 1 glycogen storage disease, we propose that poor growth of prenatal onset, mild-to-moderate learning disability, primary pulmonary hypertension, delayed or incomplete puberty, hypothyroidism and dysmorphism likely represent features of this syndrome. We also suggest monitoring for lipid anomalies, and kidney and liver function in affected patients. Delineation of the SCN4 phenotype may help in appropriate treatment and management and provide further insights into the pathogenesis of this multisystem disease.
Publisher
Springer International Publishing,Nature Publishing Group
Subject
/ Adult
/ Biological and medical sciences
/ Biomedical and Life Sciences
/ Carbohydrates (enzymatic deficiencies). Glycogenosis
/ Defects
/ Developmental Disabilities - genetics
/ Female
/ Fundamental and applied biological sciences. Psychology
/ General aspects. Genetic counseling
/ Genetics
/ Genetics of eukaryotes. Biological and molecular evolution
/ Glucose
/ Glucose-6-Phosphatase - genetics
/ Glycogen
/ Glycogen Storage Disease Type I - genetics
/ Heart Defects, Congenital - genetics
/ Humans
/ Kidneys
/ Learning Disorders - genetics
/ Liver
/ Lung
/ Male
/ Molecular and cellular biology
/ Mutation
/ Neutropenia - physiopathology
/ Patients
/ Pedigree
/ Puberty
/ Ulcers
/ Veins
