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 2017 Taylor & Francis
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 Type:||Refereed Article|
|Keywords:||Cataracts, iron metabolism, iron responsive element, serum ferritin|
|Research Division:||Medical and Health Sciences|
|Research Group:||Ophthalmology and Optometry|
|Objective Group:||Clinical Health (Organs, Diseases and Abnormal Conditions)|
|Objective Field:||Hearing, Vision, Speech and Their Disorders|
|Author:||Burdon, KP (Associate Professor Kathryn Burdon)|
|Year Published:||2017 (online first 2016)|
|Deposited By:||Menzies Institute for Medical Research|
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