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A novel EFNB1 mutation (c.712delG) in a family with craniofrontonasal syndrome and diaphragmatic hernia.

Abstract
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.
AuthorsJacob Hogue, Suma Shankar, Hazel Perry, Reena Patel, Karin Vargervik, Anne Slavotinek
JournalAmerican journal of medical genetics. Part A (Am J Med Genet A) Vol. 152A Issue 10 Pg. 2574-7 (Oct 2010) ISSN: 1552-4833 [Electronic] United States
PMID20734337 (Publication Type: Journal Article)
CopyrightCopyright © 2010 Wiley-Liss, Inc.
Chemical References
  • EFNB1 protein, human
  • Ephrin-B1
Topics
  • Cesarean Section
  • Child, Preschool
  • Craniofacial Abnormalities (genetics)
  • Craniosynostoses (genetics)
  • Ephrin-B1 (genetics)
  • Exons (genetics)
  • Female
  • Hernia, Diaphragmatic (genetics)
  • Humans
  • Infant
  • Male
  • Mutation
  • Pregnancy
  • Sequence Deletion

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