Journal
EUROPEAN JOURNAL OF HUMAN GENETICS
Volume 14, Issue 7, Pages 884-887Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/sj.ejhg.5201633
Keywords
craniofrontonasal syndrome; congenital diaphragmatic hernia; EFNB1
Funding
- Wellcome Trust Funding Source: Medline
Ask authors/readers for more resources
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.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available