Khan WJ, Maqsood H, Younus S. Novel IRF2BPL gene mutation manifesting as a broad spectrum of neurological disorders: a case report. BMJ Neurology Open 2023;5:e000459. doi:10.1136/bmjno-2023–0 00 459.
This case report has been retracted because the diagnosis/genetic findings are unreliable.
The authors claimed that their case described ‘a novel pathogenic mutation in the IRF2BPL gene (heterozygous variant), which had never been reported in the literature before. An autosomal dominant loss of function mutation was demonstrated, denoting in DNA as NM_0 24 496 c.911 C>T, which results in premature protein termination (p.Glu494).’
Three issues were identified:
The description of the variant in IRF2BPL does not match the reference sequence (at position c.911 in NM_024496 the nucleotide is a G not a C);
Changes at the c.911 codon affect amino acid 304 and not 494 as claimed; and
The amino acid in the reference sequence at amino acid 494 is a Met, not a Glu.
The authors did not respond to the journal’s request for their comments on these concerns. The journal was confident that the annotated genetic change included in the case was unreliable and the main messages were unsubstantiated.