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Pitfalls of X-chromosome inactivation testing in females with Fabry disease

The result's identifiers

  • Result code in IS VaVaI

    <a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064165%3A_____%2F22%3A10443368" target="_blank" >RIV/00064165:_____/22:10443368 - isvavai.cz</a>

  • Alternative codes found

    RIV/00216208:11110/22:10443368 RIV/00064190:_____/22:N0000015

  • Result on the web

    <a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=.nI6vI_1MG" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=.nI6vI_1MG</a>

  • DOI - Digital Object Identifier

    <a href="http://dx.doi.org/10.1002/ajmg.a.62728" target="_blank" >10.1002/ajmg.a.62728</a>

Alternative languages

  • Result language

    angličtina

  • Original language name

    Pitfalls of X-chromosome inactivation testing in females with Fabry disease

  • Original language description

    Fabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations in the GLA gene encoding alpha-galactosidase A (AGAL). The impact of X-chromosome inactivation (XCI) on the phenotype of female FD patients remains unclear. In this study we aimed to determine pitfalls of XCI testing in a cohort of 35 female FD patients. XCI was assessed by two methylation-based and two allele-specific expression assays. The results correlated, although some variance among the four assays was observed. GLA transcript analyses identified crossing-over in three patients and detected mRNA instability in three out of four analyzed null alleles. AGAL activity correlated with XCI pattern and was not influenced by the mutation type or by reduced mRNA stability. Therefore, AGAL activity may help to detect crossing-over in patients with unstable GLA alleles. Tissue-specific XCI patterns in six patients, and age-related changes in two patients were observed. To avoid misinterpretation of XCI results in female FD patients we show that (i) a combination of several XCI assays generates more reliable results and minimizes possible biases; (ii) correlating XCI to GLA expression and AGAL activity facilitates identification of cross-over events; (iii) age- and tissue-related XCI specificities of XCI patterning should be considered.

  • Czech name

  • Czech description

Classification

  • Type

    J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database

  • CEP classification

  • OECD FORD branch

    30101 - Human genetics

Result continuities

  • Project

    <a href="/en/project/NU21-08-00324" target="_blank" >NU21-08-00324: Evaluation of new biomarkers of Fabry disease in selected groups of patients in the Czech Republic</a><br>

  • Continuities

    P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Others

  • Publication year

    2022

  • Confidentiality

    S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Data specific for result type

  • Name of the periodical

    American Journal of Medical Genetics: Part A

  • ISSN

    1552-4825

  • e-ISSN

    1552-4833

  • Volume of the periodical

    188

  • Issue of the periodical within the volume

    7

  • Country of publishing house

    US - UNITED STATES

  • Number of pages

    11

  • Pages from-to

    1979-1989

  • UT code for WoS article

    000773215500001

  • EID of the result in the Scopus database

    2-s2.0-85127276224