A novel mutation in the SLC40A1 gene associated with reduced iron export in vitro

• DOI: 10.1002/ajh.23714
• Publication Date: 2014-03-19T07:18:40Z
• Authors: María‐Isabel More...; Juan‐Antonio Muño...; Nuria Cuadrado‐Gr...; Rafaela López‐Rod...; María José Hernán...; Alejandro del‐Cas...; Rafael Enríquez‐d...; Manuel Méndez; María‐Josefa Morá...
• Keywords: HAMP; Ferroportin; Penetrance

Ferroportin disease is an inherited disorder of iron metabolism and caused by mutations in the ferroportin gene (SLC40A1). We present a patient with hyperferritinemia, overload liver reticuloendothelial distribution also spleen, under treatment erythropheresis. A molecular study genes involved (HFE, HJV, HAMP, TFR2, SLC40A1) was undertaken. In vitro functional studies novel mutation found SLC40A1 performed. The heterozygous for mutation, c.386T>C (p.L129P) gene; some his relatives were this mutation. L129P on showed it impairs its capacity to export from cells but does not alter sensitivity hepcidin. These findings phenotype suggest that has incomplete penetrance causes classical form disease.