Case report: a subject with a mutation in the ATG start codon of L-ferritin has no haematological or neurological symptoms

• Published in: Journal of medical genetics Vol. 41; no. 6; p. e81
• Main Authors: Cremonesi, L, Cozzi, A, Girelli, D, Ferrari, F, Fermo, I, Foglieni, B, Levi, S, Bozzini, C, Camparini, M, Ferrari, M, Arosio, P
• Format: Journal Article
• Language: English
• Published: England BMJ Publishing Group Ltd 01.06.2004; BMJ Publishing Group LTD; BMJ Group
• Subjects: Apoferritins; Base Sequence; Blood & organ donations; Cataract - blood; Cataract - genetics; Cataract - pathology; Cataracts; Chromatography, High Pressure Liquid - methods; Codon, Initiator - genetics; Deoxyribonucleic acid; DNA; DNA Mutational Analysis; Ferritins - blood; Ferritins - genetics; Genetic disorders; Hematologic Diseases - genetics; Hematologic Diseases - pathology; Hematology; HHCS; Homeostasis; Humans; hyperferritinaemia; hyperferritinaemia cataract syndrome; IRE; iron metabolism; iron regulatory protein; iron responsive element; IRP; Metabolism; Mutation; Nervous System Diseases - genetics; Nervous System Diseases - pathology; neurodegenerative disorders; neuroferritinopathy; Online Mutation Report; Point Mutation; Proteins
• ISSN: 0022-2593; 1468-6244; 1468-6244
• DOI: 10.1136/jmg.2003.011718

The L-ferritin transcript does not have any ATG upstream of the start codon and the improbable use of the next in-frame ATG (Met-69) would encode a non-functional and unstable protein of 106 amino acids. [...]the A->G mutation was predicted to disable protein translation and expression. [...]the present case report suggests that neuroferritinopathy is not a consequence of haploinsufficency of L-ferritin protein, but more likely a gain-of-function caused by the predicted abnormal C-terminus of the protein.