L-ferritin: one gene, five diseases; from hereditary hyperferritinemia to hypoferritinemia - report of new cases
Author
Cadenas, Beatriz
Fita-Torró, Josep
Bermúdez-Cortés, Mar
Hernandez-Rodriguez, Inés
Fuster, José Luis
Llinares, María Esther
Galera, Ana María
Lee Romero, Julia
Pérez-Montero, Santiago
Tornador, Cristian
Sanchez, Mayka
Publication date
2019ISSN
1424-8247
Abstract
Ferritin is a multimeric protein composed of light (L-ferritin) and heavy (H-ferritin) subunits that binds and stores iron inside the cell. A variety of mutations have been reported in the L-ferritin subunit gene (FTL gene) that cause the following five diseases: (1) hereditary hyperferritinemia with cataract syndrome (HHCS), (2) neuroferritinopathy, a subtype of neurodegeneration with brain iron accumulation (NBIA), (3) benign hyperferritinemia, (4) L-ferritin deficiency with autosomal dominant inheritance, and (5) L-ferritin deficiency with autosomal recessive inheritance. Defects in the FTL gene lead to abnormally high levels of serum ferritin (hyperferritinemia) in HHCS and benign hyperferritinemia, while low levels (hypoferritinemia) are present in neuroferritinopathy and in autosomal dominant and recessive L-ferritin deficiency. Iron disturbances as well as neuromuscular and cognitive deficits are present in some, but not all, of these diseases. Here, we identified two novel FTL variants that cause dominant L-ferritin deficiency and HHCS (c.375+2T > A and 36_42delCAACAGT, respectively), and one previously reported variant (Met1Val) that causes dominant L-ferritin deficiency. Globally, genetic changes in the FTL gene are responsible for multiple phenotypes and an accurate diagnosis is useful for appropriate treatment. To help in this goal, we included a diagnostic algorithm for the detection of diseases caused by defects in FTL gene.
Document Type
Article
Document version
Published version
Language
English
Subject (CDU)
61 - Medical sciences
Keywords
Ferritina
Hiperferritinèmia hereditària
Metabolisme del ferro
Síndrome de cataractes
Malaltia neurodegenerativa
Ferritina
Hiperferritinemia hereditaria
Metabolismo del hierro
Síndrome de cataratas
Enfermedad neurodegenerativa
Ferritin
Hereditary hyperferritinemia
Iron metabolism
Cataract syndrome
Neurodegenerative disease
Pages
15
Publisher
MDPI
Collection
12; 1
Is part of
Pharmaceuticals
Citation
Cadenas, Beatriz; Fita-Torró, Josep; Bermúdez-Cortés, Mar [et al.] L-ferritin: one gene, five diseases; from hereditary hyperferritinemia to hypoferritinemia - report of new cases. Pharmaceuticals, 2019, 12(1), 17. Disponible en: <https://www.mdpi.com/1424-8247/12/1/17>. Fecha de acceso: 17 ene. 2022. DOI: 10.3390/ph12010017
This item appears in the following Collection(s)
- Ciències de la Salut [745]
Rights
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Except where otherwise noted, this item's license is described as https://creativecommons.org/licenses/by/4.0/