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Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia

2006; Springer Nature; Volume: 14; Issue: 7 Linguagem: Inglês

10.1038/sj.ejhg.5201633

1476-5438

Pradeep Vasudevan, Stephen R.F. Twigg, John B. Mulliken, Jackie Cook, Oliver Quarrell, Andrew O.M. Wilkie,

Wnt/β-catenin signaling in development and cancer

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.