LAUSR

A Novel Mutation in G6PC3 Gene Associated Non-syndromic Severe Congenital Neutropenia TORCH titres were normal. Chromosomal breakage studies and stool for fat globules were negative. Ultrasound was not suggestive of pancreatic fibrosis or renal anomaly. Targeted clinical exome sequencing by next generation sequencing was sent for congenital neutropenia. A homozygous single base pair deletion in exon 3 of the G6PC3 gene variant c.372delC that results in a frameshift and premature truncation of the protein at codon 125 was detected. Echocardiography did not reveal any structural heart disease or pulmonary hypertension. Brainstem evoked response audiometry suggested mild hearing loss.