Evers, C. and Jungwirth, M. S. and Morgenthaler, J. and Hinderhofer, K. and Maas, B. and Janssen, J. W. G. and Jauch, A. and Hehr, U. and Steinbeisser, H. and Moog, U. (2014) Craniofrontonasal syndrome in a male due to chromosomal mosaicism involving EFNB1: further insights into a genetic paradox. CLINICAL GENETICS, 85 (4). pp. 347-352. ISSN 0009-9163, 1399-0004
Full text not available from this repository. (Request a copy)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 approximate to 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.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | MUTATIONS; EPHRIN-B1; EPH; HYBRIDIZATION; REVERSE; craniofrontonasal syndrome; EFNB1; ephrin-B1; mosaicism; supernumerary ring X chromosome |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Humangenetik |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 15 Nov 2019 12:24 |
| Last Modified: | 15 Nov 2019 12:24 |
| URI: | https://pred.uni-regensburg.de/id/eprint/10424 |
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