Abstract
Craniofrontonasal syndrome (CFNS, MIM 304110) is an X-linked craniofacial disorder that shows paradoxically greater severity in heterozygous females than in hemizygous males. Mutations have been identified in the EFNB1 gene that encodes a member of the ephrin-B family of transmembrane ligands for Eph receptor tyrosine kinases. Here, we describe two unrelated families, in both of which a mother and her son have proven mutations in EFNB1. The mothers have classical features of CFNS; although the sons have no major craniofacial features other than telecanthus, both had a congenital diaphragmatic hernia (CDH). Our cases represent the first in which CDH has been confirmed in males with mutations in EFNB1, highlighting an important role for signalling by ephrin-B1 in the development of the diaphragm.
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Acknowledgements
We are very grateful to the families for their participation in this work. The mutation analysis described in this work was funded by the Wellcome Trust (AOMW).
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Vasudevan, P., Twigg, S., Mulliken, J. et al. Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia. Eur J Hum Genet 14, 884–887 (2006). https://doi.org/10.1038/sj.ejhg.5201633
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DOI: https://doi.org/10.1038/sj.ejhg.5201633
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