Sequence analysis of exon 1 of the ferritin light chain (<i><scp>FTL</scp></i>) gene can reveal the rare disorder ‘hereditary hyperferritinaemia without cataracts’

Bhuva, Meha; Sen, Sambit; Elsey, Terence S.; Atoyebi, Wale; Dreau, Hélène; Bradbury, Charlotte; Johnston, Rosalynd; Bignell, P; Griffiths, William

doi:10.1111/bjh.15231

Cited by 3 publications

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“…Three heterozygous mutations in FTL exon 1 have been associated with hyperferritinemia without iron overload where cataracts were absent; this condition has also been named benign hyperferritinemia. The Thr30Ile mutation (rs397514540, ExAc MAF = 0.000008) has been identified in French and British families [15,25]. Two further pathogenic mutations—p.…”

Section: Resultsmentioning

confidence: 99%

“…These three variants alter the A α-helix near the N terminus of L-ferritin; it has been hypothesized that the aberrant peptide extends the length of the hydrophobic cluster of amino acids at the N terminus, increasing the secretion of L-ferritin [15]. However, the reason for the development of hyperferritinemia and hyperglycosylation associated with these mutant ferritin forms is still not fully elucidated [25].…”

Section: Resultsmentioning

confidence: 99%

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L-Ferritin: One Gene, Five Diseases; from Hereditary Hyperferritinemia to Hypoferritinemia—Report of New Cases

Cadenas

Fita-Torró²,

Bermúdez-Cortés

et al. 2019

Pharmaceuticals

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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.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%