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

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Akademik Birimler

Kurum Yazarları

Sag, Sebnem Ozemri
Temel, Sehime Gulsun

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Tuncel, Gulten
Ergören, Mahmut Çerkez

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Walter De Gruyter Gmbh

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Objectives: Fructose-1,6-bisphosphatase deficiency (FBPase deficiency, OMIM 229700) is an early-onset rare genetic disorder caused by mutations in the FBP1 gene.Case presentation: Our 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.Conclusions: This case emphasizes the importance of sequencing data analysis for precise diagnosis of rare diseases and therapy planning.

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Fbpase deficiency, Fructose-1,6-biphospatase, Rare disease, Science & technology, Life sciences & biomedicine, Biochemistry & molecular biology, Biochemistry & molecular biology

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