19 May 2026
: Case report 
Neonatal-Onset Refractory Thrombocytopenia and Anemia Associated With a Homozygous In-Frame NFE2 Duplication
Challenging differential diagnosis, Rare disease, Congenital defects / diseases, Rare coexistence of disease or pathology
Mohammed Shahab Uddin
ABCDEF 1,2,3*, Maan Albehair BFG 4,2,3, Fayez Nashi Motlaq Alshammari BFG 4,2,3, Amr Esmail BFG 4,2,3, Khaled Shafeen BFG 5, Abdullah Bin Hassan BEG 4,2,3, Hana Bawazier ACE 4,2,3
DOI: 10.12659/AJCR.952024
Am J Case Rep 2026; 27:e952024
Figure 2 IGV confirmation of the NFE2 in-frame duplication (c.889_900dup; p.Glu297_Arg300dup). Integrative Genomics Viewer (IGV) screenshot aligned to GRCh38/hg38 demonstrating a 12-bp in-frame duplication in NFE2. The upper panel shows the genomic location on chromosome 13 and the NFE2 gene model. The middle panel displays aligned BAM reads from the proband, with the duplication breakpoint highlighted (red dashed box). In this view, reads support the duplicated sequence and no reference-supporting reads are observed at the duplication site, findings consistent with an apparent biallelic duplication. The lower panel shows the reference genome sequence, with the duplicated 12-bp segment boxed in red. The duplication corresponds to c.889_900dup and predicts the in-frame protein change p.Glu297_Arg300dup.