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A patient with de novo 0.45Mb deletion of 2p16.1: The role of BCL11A, PAPOLG, REL, and FLJ16341 in the 2p15-p16.1 microdeletion syndrome

The result's identifiers

  • Result code in IS VaVaI

    <a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F13%3A10193078" target="_blank" >RIV/00216208:11130/13:10193078 - isvavai.cz</a>

  • Alternative codes found

    RIV/00064203:_____/13:10193078

  • Result on the web

    <a href="http://dx.doi.org/10.1002/ajmg.a.35783" target="_blank" >http://dx.doi.org/10.1002/ajmg.a.35783</a>

  • DOI - Digital Object Identifier

    <a href="http://dx.doi.org/10.1002/ajmg.a.35783" target="_blank" >10.1002/ajmg.a.35783</a>

Alternative languages

  • Result language

    angličtina

  • Original language name

    A patient with de novo 0.45Mb deletion of 2p16.1: The role of BCL11A, PAPOLG, REL, and FLJ16341 in the 2p15-p16.1 microdeletion syndrome

  • Original language description

    The 2p15-p16.1 microdeletion syndrome is a novel, rare disorder characterized by developmental delay, intellectual disability, microcephaly, growth retardation, facial abnormalities, and other medical problems. We report here on an 11-year-old female showing clinical features consistent with the syndrome and carrying a de novo 0.45Mb long deletion of the paternally derived 2p16.1 allele. The deleted region contains only three protein-coding RefSeq genes, BCL11A, PAPOLG, and REL, and one long non-codingRNA gene FLJ16341. Based on close phenotypic similarities with six reported patients showing typical clinical features of the syndrome, we propose that the critical region can be narrowed down further, and that these brain expressed genes can be considered candidates for the features seen in this microdeletion syndrome. (c) 2013 Wiley Periodicals, Inc.

  • Czech name

  • Czech description

Classification

  • Type

    J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

  • CEP classification

    EB - Genetics and molecular biology

  • OECD FORD branch

Result continuities

  • Project

    <a href="/en/project/LD11028" target="_blank" >LD11028: New approaches to early diagnostics of autism</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

    2013

  • 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

  • Volume of the periodical

    161A

  • Issue of the periodical within the volume

    4

  • Country of publishing house

    US - UNITED STATES

  • Number of pages

    6

  • Pages from-to

    865-870

  • UT code for WoS article

    000316631300035

  • EID of the result in the Scopus database