| |  Online-Ressource |
|---|
| Verfasst von: | Evers, Christina [VerfasserIn]  |
|---|
| | Jungwirth, Maria Sophia [VerfasserIn] |
|---|
| | Morgenthaler, J. [VerfasserIn] |
|---|
| | Hinderhofer, Katrin [VerfasserIn] |
|---|
| | Maas, B. [VerfasserIn] |
|---|
| | Janssen, Johannes W. G. [VerfasserIn] |
|---|
| | Jauch, Anna [VerfasserIn] |
|---|
| | Hehr, Ute [VerfasserIn] |
|---|
| | Steinbeisser, Herbert [VerfasserIn] |
|---|
| | Moog, Ute [VerfasserIn] |
|---|
| Titel: | Craniofrontonasal syndrome in a male due to chromosomal mosaicism involving EFNB1 |
|---|
| Titelzusatz: | further insights into a genetic paradox |
|---|
| Verf.angabe: | C. Evers, M.S. Jungwirth, J. Morgenthaler, K. Hinderhofer, B. Maas, J.W.G. Janssen, A. Jauch, U. Hehr, H. Steinbeisser and U. Moog |
|---|
| Jahr: | 2014 |
|---|
| Jahr des Originals: | 2013 |
|---|
| Umfang: | 6 S. |
|---|
| Fussnoten: | First published: 24 April 2013 ; Gesehen am 16.09.2020 |
|---|
| Titel Quelle: | Enthalten in: Clinical genetics |
|---|
| Ort Quelle: | Oxford : Wiley-Blackwell, 1970 |
|---|
| Jahr Quelle: | 2014 |
|---|
| Band/Heft Quelle: | 85(2014), 4, Seite 347-353 |
|---|
| ISSN Quelle: | 1399-0004 |
|---|
| Abstract: | Craniofrontonasal syndrome (CFNS) is an X-linked disorder caused by inactivating mutations in the gene for ephrin-B1 (EFNB1). Paradoxically it shows a more severe phenotype in females than in males. As a result of X inactivation cell populations with and without EFNB1 expression are found in EFNB1+/− females. This is thought to initiate a process termed cellular interference which may be responsible for the phenotype in females. We present a boy with severe clinical features of CFNS. In ∼42% of his blood cells we found a supernumerary ring X chromosome containing EFNB1 but lacking XIST. Mosaicism for cell populations with different levels of EFNB1 expression can explain the severe phenotype of this patient. In vitro experiments in Xenopus tissue showed that cells overexpress ephrinB1 cluster and sort out from wild-type cells. Our report provides further evidence that cellular interference contributes to the paradoxical inheritance pattern of CFNS. |
|---|
| DOI: | doi:10.1111/cge.12171 |
|---|
| URL: | Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.
Volltext ; Verlag: https://doi.org/10.1111/cge.12171 |
|---|
| | Volltext: https://onlinelibrary.wiley.com/doi/abs/10.1111/cge.12171 |
|---|
| | DOI: https://doi.org/10.1111/cge.12171 |
|---|
| Datenträger: | Online-Ressource |
|---|
| Sprache: | eng |
|---|
| Sach-SW: | craniofrontonasal syndrome |
|---|
| | EFNB1 |
|---|
| | ephrin-B1 |
|---|
| | mosaicism |
|---|
| | supernumerary ring X chromosome |
|---|
| K10plus-PPN: | 1733147640 |
|---|
| Verknüpfungen: | → Zeitschrift |
|---|
Craniofrontonasal syndrome in a male due to chromosomal mosaicism involving EFNB1 / Evers, Christina [VerfasserIn]; 2014 (Online-Ressource)
