A novel EFNB1 mutation (c.712delG) in a family with craniofrontonasal syndrome and diaphragmatic hernia.
We report on the occurrence of congenital diaphragmatic hernia in a family with craniofrontonasal syndrome found to have a previously unreported mutation in EFNB1. The female proband presented with hypertelorism, telecanthus, bifid nasal tip, widow's peak, frontal bossing, and a widened metopic suture. Her father was noted to have hypertelorism, telecanthus, widow's peak, and a history of pectus carinatum. He was found to have a previously unreported mutation in exon 5 of EFNB1 predicted to cause premature protein truncation. The parents of the proband previously had a female fetus with congenital diaphragmatic hernia. The occurrence of congenital diaphragmatic hernia, phenotypic differences between males and females, and utility of molecular testing in craniofrontonasal syndrome are demonstrated.
Hogue
Jacob
J
Department of Pediatrics, University of California, San Francisco, California 94143-0706, USA. hoguej@peds.ucsf.edu
Shankar
Suma
S
Perry
Hazel
H
Patel
Reena
R
Vargervik
Karin
K
Slavotinek
Anne
A
D002585:Cesarean Section; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000235:genetics*; D003398:Craniosynostoses / Q000235:genetics; D036387:Ephrin-B1 / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D006548:Hernia, Diaphragmatic / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D011247:Pregnancy; D017384:Sequence Deletion
C484288:EFNB1 protein, human; D036387:Ephrin-B1