title: Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia.
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.
authors.affiliation: Department of Clinical Genetics, Sheffield Children's Hospital, Sheffield, South Yorkshire, UK. pradeepcv@yahoo.com
authors.forename: Pradeep C
authors.initials: PC
authors.lastname: Vasudevan
authors.forename: Stephen R F
authors.initials: SR
authors.lastname: Twigg
authors.forename: John B
authors.initials: JB
authors.lastname: Mulliken
authors.forename: Jackie A
authors.initials: JA
authors.lastname: Cook
authors.forename: Oliver W J
authors.initials: OW
authors.lastname: Quarrell
authors.forename: Andrew O M
authors.initials: AO
authors.lastname: Wilkie
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000235:genetics*; D036387:Ephrin-B1 / Q000235:genetics*; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000235:genetics; D006548:Hernia, Diaphragmatic / Q000235:genetics*; D065630:Hernias, Diaphragmatic, Congenital; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D013577:Syndrome
chemical_list: C484288:EFNB1 protein, human; D036387:Ephrin-B1