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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&apos; 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&gt;T, c.-167C&gt;T, and c.-168G&gt;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&gt;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

  • Czech description

Classification

  • Type

    J<sub>SC</sub> - Article in a specialist periodical, which is included in the SCOPUS database

  • CEP classification

  • 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

  • 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

  • EID of the result in the Scopus database

    2-s2.0-85097470265