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

Jacob Hogue, Suma Shankar, Hazel Perry, Reena Patel, Karin Vargervik, Anne Slavotinek

Research output: Contribution to journalArticle

18 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)2574-2577
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Volume152 A
Issue number10
DOIs
StatePublished - Oct 1 2010
Externally publishedYes

Keywords

  • Congenital diaphragmatic hernia
  • Craniofrontonasal syndrome
  • EFNB1

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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