Hereditary hyperferritinemia-cataract syndrome in three Czech families: molecular genetic testing and clinical implications
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F20%3A10417803" target="_blank" >RIV/00216208:11130/20:10417803 - isvavai.cz</a>
Alternative codes found
RIV/00064203:_____/20:10417803 RIV/00216208:11110/20:10417803 RIV/00064165:_____/20:10417803
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=jzKTnYJtLH" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=jzKTnYJtLH</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1016/j.jaapos.2020.07.014" target="_blank" >10.1016/j.jaapos.2020.07.014</a>
Alternative languages
Result language
angličtina
Original language name
Hereditary hyperferritinemia-cataract syndrome in three Czech families: molecular genetic testing and clinical implications
Original language description
BACKGROUND: Hereditary hyperferritinemia-cataract syndrome (HHCS) is an autosomal dominant disorder manifesting with high serum ferritin levels and the formation of early-onset cataracts, with numerous small opacities, predominantly in the lens cortex. HHCS is caused by mutations in the iron-responsive element of the FTL gene. The aim of this study was to establish a molecular diagnosis in three Czech probands with suspected HHCS. METHODS: A complex ocular and systemic evaluation, including ferritin and iron measurements, was performed. The 5' untranslated region of FTL was directly sequenced in all available family members, followed by paternity testing in one family. RESULTS: Three different FLT pathogenic variants (c.-161C>T, c.-167C>T, and c.-168G>C) present in the heterozygous state were detected in each of the 3 probands. Two segregated with the disease phenotype within the families, but c.-167C>T occurred de novo (confirmed by paternity testing). Prior to establishing molecular diagnosis, two probands were misdiagnosed with hemochromatosis. One individual, aged 43 years, underwent phlebotomy; another, aged 8.5 years, was treated with the iron chelator deferasirox, leading to life-threatening acute hyperammonemia, without severe liver injury. CONCLUSIONS: Lack of family history does not exclude HHCS, because the pathogenic variant can arise de novo. Noncoding regions are often omitted from diagnostic gene panels, thus evading detection. Careful clinical evaluations and targeted genetic screening are important for avoiding potentially harmful treatments.
Czech name
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Czech description
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Classification
Type
J<sub>SC</sub> - Article in a specialist periodical, which is included in the SCOPUS database
CEP classification
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OECD FORD branch
10600 - Biological sciences
Result continuities
Project
<a href="/en/project/NV17-30500A" target="_blank" >NV17-30500A: Congenital cataracts - next-generation sequencing in diagnosis and management</a><br>
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2020
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus / American Association for Pediatric Ophthalmology and Strabismus
ISSN
1091-8531
e-ISSN
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Volume of the periodical
24
Issue of the periodical within the volume
6
Country of publishing house
US - UNITED STATES
Number of pages
5
Pages from-to
"352e1"-"352e5"
UT code for WoS article
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EID of the result in the Scopus database
2-s2.0-85097470265