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

Journal article

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: Vasudevan, P; Twigg, SR; Mulliken, J; Cook, J; Quarrell, O

• Publication status: Published
• Journal: European journal of human genetics : EJHG
• Volume: 14
• Issue: 7
• Pages: 884-887
• Publication date: 2006-07-01
• DOI: 10.1038/sj.ejhg.5201633
• EISSN: 1476-5438
• ISSN: 1018-4813
• Language: English
• Keywords: Abnormalities, Multiple; Syndrome; Humans; Child, Preschool; Infant, Newborn; Phenotype; Genetic Diseases, X-Linked; Male; Craniofacial Abnormalities; Female; Hernia, Diaphragmatic; Ephrin-B1