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Ferritin light chain gene mutation in a large Australian family with hereditary hyperferritinemia-cataract syndrome


Yazar, S and Franchina, M and Craig, JE and Burdon, KP and Mackey, DA, Ferritin light chain gene mutation in a large Australian family with hereditary hyperferritinemia-cataract syndrome, Ophthalmic Genetics, 38, (2) pp. 171-174. ISSN 1381-6810 (2017) [Refereed Article]

Copyright Statement

Copyright 2017 Taylor & Francis

DOI: doi:10.3109/13816810.2016.1164195


Background: Hereditary hyperferritinemia-cataract syndrome (HHCS) is an autosomal dominant Mendelian disorder characterized by early onset cataracts and elevated levels of serum ferritin in the absence of iron overload. Numerous mutations associated with the development of HHCS have been reported in the 5′ non-coding region of the ferritin light chain (FTL) gene in family studies. We present an FTL mutation in an Australian family with 10 HHCS-affected members spanning three generations.

Materials and methods: Blood and saliva samples were collected from affected and unaffected family members and DNA was extracted using commercially available kits (Qiagen). The complete sequencing of the iron-responsive element (IRE) of the FTL gene was analyzed using bi-directional genomic sequencing.

Results: A heterozygous single nucleotide substitution (c.-167 C>T) was identified in the proband and five affected family members (logarithm of the odds score [Z] = 3.61, recombination distance [θ = 0]). All affected individuals had previously been found to have high ferritin levels and early onset cataracts.

Conclusion: This is the first Australian report of the c.-167 C>T mutation in a large family with multiple affected individuals. This finding raises the possibility that identification of HHCS mutations may be an effective means of disease detection and may aid in facilitating appropriate genetic counseling.

Item Details

Item Type:Refereed Article
Keywords:Cataracts, iron metabolism, iron responsive element, serum ferritin
Research Division:Biomedical and Clinical Sciences
Research Group:Ophthalmology and optometry
Research Field:Ophthalmology
Objective Division:Health
Objective Group:Clinical health
Objective Field:Clinical health not elsewhere classified
UTAS Author:Burdon, KP (Professor Kathryn Burdon)
ID Code:111200
Year Published:2017 (online first 2016)
Web of Science® Times Cited:3
Deposited By:Menzies Institute for Medical Research
Deposited On:2016-09-02
Last Modified:2017-12-05

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