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NM_000146.4(FTL):c.-189_-161del AND Hereditary hyperferritinemia with congenital cataracts

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 19, 2013
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000017942.29

Allele description [Variation Report for NM_000146.4(FTL):c.-189_-161del]

NM_000146.4(FTL):c.-189_-161del

Gene:
FTL:ferritin light chain [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
19q13.33
Genomic location:
Preferred name:
NM_000146.4(FTL):c.-189_-161del
HGVS:
  • NC_000019.10:g.48965319_48965347del
  • NG_008152.1:g.5011_5039del
  • NM_000146.4:c.-189_-161delMANE SELECT
  • NC_000019.9:g.49468576_49468604del
  • NM_000146.3:c.-190_-162del
Links:
OMIM: 134790.0005; dbSNP: rs1555796939
NCBI 1000 Genomes Browser:
rs1555796939
Molecular consequence:
  • NM_000146.4:c.-189_-161del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

Condition(s)

Name:
Hereditary hyperferritinemia with congenital cataracts
Synonyms:
Hyperferritinemia cataract syndrome; Hereditary hyperferritinemia cataract syndrome; Bonneau-Beaumont syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010952; MedGen: C1833213; Orphanet: 163; OMIM: 600886

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000038221OMIM
no assertion criteria provided
Pathogenic
(Feb 19, 2013) 		germlineliterature only

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome.

Luscieti S, Tolle G, Aranda J, Campos CB, Risse F, Morán É, Muckenthaler MU, Sánchez M.

Orphanet J Rare Dis. 2013 Feb 19;8:30. doi: 10.1186/1750-1172-8-30.

PubMed [citation]
PMID:
23421845
PMCID:
PMC3585816

Hereditary hyperferritinemia-cataract syndrome caused by a 29-base pair deletion in the iron responsive element of ferritin L-subunit gene.

Girelli D, Corrocher R, Bisceglia L, Olivieri O, Zelante L, Panozzo G, Gasparini P.

Blood. 1997 Sep 1;90(5):2084-8.

PubMed [citation]
PMID:
9292547
See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000038221.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (3)

Description

Luscieti et al. (2013) referred to this mutation as c.-190_-162del29 (+10_38del29).

In a family with individuals in 3 generations affected by hyperferritinemia-cataract syndrome (HRFTC; 600886), Girelli et al. (1997) demonstrated that the syndrome was produced by a 29-bp deletion in the IRE of the FTL gene. The deletion involved the entire 5-prime sequence essential to base pairing of the IRE stem and was predicted to cause the disruption of IRE stem-loop secondary structure and the nearly complete abolition of the negative control of ferritin synthesis by IRE/IRP binding. Girelli et al. (2001) provided a follow-up of this family with affected members in 4 generations in an autosomal dominant pattern. Slit-lamp photographs of the lens taken a few days before cataract surgery showed a pulverulent cataract in an 11-year-old member of the family and a sunflower cataract in his 31-year-old aunt.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 29, 2023