A rare case of fructose-1,6-bisphosphatase deficiency: a delayed diagnosis story

Abstract

AbstractObjectivesFructose-1,6-bisphosphatase deficiency (FBPase deficiency, OMIM 229700) is an early-onset rare genetic disorder caused by mutations in the FBP1 gene.Case presentationOur patient was 17-years-old when she was diagnosed with the disease. Initial sequencing analysis with Ion Torrent technology failed to detect the gross deletion that covered complete exon 2 (c.-24-26_170 + 5192del) of FBP1 gene and caused the delay in diagnosis. Deletion was then detected when sequencing was performed in an Illumina MiSeq platform.ConclusionsThis case emphasizes the importance of sequencing data analysis for precise diagnosis of rare diseases and therapy planning.