Deutsch
 
Hilfe Datenschutzhinweis Impressum
  DetailsucheBrowse

Datensatz

DATENSATZ AKTIONENEXPORT
  EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO

Skopkova, M., Hennig, F., Shin, B. S., Turner, C. E., Stanikova, D., Brennerova, K., et al. (2017). EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO. Human Mutation, 38(4), 409-425. doi:10.1002/humu.23170.

Item is

Basisdaten

einblenden: ausblenden:
Genre: Zeitschriftenartikel

Dateien

einblenden: Dateien
ausblenden: Dateien
:
Skopkova.pdf (Verlagsversion), 2MB
Name:
Skopkova.pdf
Beschreibung:
-
OA-Status:
Sichtbarkeit:
Öffentlich
MIME-Typ / Prüfsumme:
application/pdf / [MD5]
Technische Metadaten:
Copyright Datum:
-
Copyright Info:
© 2017 John Wiley & Sons, Inc.
Lizenz:
-

Externe Referenzen

einblenden:
ausblenden:
externe Referenz:
http://www.ncbi.nlm.nih.gov/pubmed/28055140 (beliebiger Volltext)
Beschreibung:
-
OA-Status:

Urheber

einblenden:
ausblenden:
 Urheber:
Skopkova, M., Autor
Hennig, F.1, Autor           
Shin, B. S., Autor
Turner, C. E., Autor
Stanikova, D., Autor
Brennerova, K., Autor
Stanik, J., Autor
Fischer, U.2, Autor           
Henden, L., Autor
Müller, U., Autor
Steinberger, D., Autor
Leshinsky-Silver, E., Autor
Bottani, A., Autor
Kurdiova, T., Autor
Ukropec, J., Autor
Nyitrayova, O., Autor
Kolnikova, M., Autor
Klimes, I., Autor
Borck, G., Autor
Bahlo, M., Autor
Haas, S. A.3, Autor           Kim, J. R., AutorLotspeich-Cole, L. E., AutorGasperikova, D., AutorDever, T. E., AutorKalscheuer, V. M.1, Autor            mehr..
Affiliations:
1Chromosome Rearrangements and Disease (Vera Kalscheuer), Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_2385702              
2Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557              
3Gene Structure and Array Design (Stefan Haas), Dept. of Computational Molecular Biology (Head: Martin Vingron), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479640              

Inhalt

einblenden:
ausblenden:
Schlagwörter: Eif2s3 MEHMO syndrome Xlid integrated stress response translation initiation unfolded-protein response
 Zusammenfassung: Impairment of translation initiation and its regulation within the integrated stress response (ISR) and related unfolded-protein response has been identified as a cause of several multisystemic syndromes. Here, we link MEHMO syndrome, whose genetic etiology was unknown, to this group of disorders. MEHMO is a rare X-linked syndrome characterized by profound intellectual disability, epilepsy, hypogonadism and hypogenitalism, microcephaly, and obesity. We have identified a C-terminal frameshift mutation (Ile465Serfs) in the EIF2S3 gene in three families with MEHMO syndrome and a novel maternally inherited missense EIF2S3 variant (c.324T>A; p.Ser108Arg) in another male patient with less severe clinical symptoms. The EIF2S3 gene encodes the gamma subunit of eukaryotic translation initiation factor 2 (eIF2), crucial for initiation of protein synthesis and regulation of the ISR. Studies in patient fibroblasts confirm increased ISR activation due to the Ile465Serfs mutation and functional assays in yeast demonstrate that the Ile465Serfs mutation impairs eIF2gamma function to a greater extent than tested missense mutations, consistent with the more severe clinical phenotype of the Ile465Serfs male mutation carriers. Thus, we propose that more severe EIF2S3 mutations cause the full MEHMO phenotype, while less deleterious mutations cause a milder form of the syndrome with only a subset of the symptoms.

Details

einblenden:
ausblenden:
Sprache(n): eng - English
 Datum: 2017-01-232017-04
 Publikationsstatus: Erschienen
 Seiten: 17
 Ort, Verlag, Ausgabe: -
 Inhaltsverzeichnis: -
 Art der Begutachtung: -
 Identifikatoren: DOI: 10.1002/humu.23170
ISSN: 1098-1004 (Electronic)1059-7794 (Print)
 Art des Abschluß: -

Veranstaltung

einblenden:

Entscheidung

einblenden:

Projektinformation

einblenden:

Quelle 1

einblenden:
ausblenden:
Titel: Human Mutation
  Andere : Hum Mut
Genre der Quelle: Zeitschrift
 Urheber:
Affiliations:
Ort, Verlag, Ausgabe: New York, N.Y. : Wiley-Liss
Seiten: - Band / Heft: 38 (4) Artikelnummer: - Start- / Endseite: 409 - 425 Identifikator: ISSN: 1059-7794
CoNE: https://pure.mpg.de/cone/journals/resource/954925597586