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A novel EFNB1 mutation (c.712delG) in a family with craniofrontonasal syndrome and diaphragmatic hernia
Author(s) -
Hogue Jacob,
Shankar Suma,
Perry Hazel,
Patel Reena,
Vargervik Karin,
Slavotinek Anne
Publication year - 2010
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33596
Subject(s) - hypertelorism , pectus carinatum , proband , diaphragmatic hernia , brachycephaly , medicine , frontal bossing , hernia , anatomy , genetics , pediatrics , mutation , surgery , biology , skull , gene , pectus excavatum
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. © 2010 Wiley‐Liss, Inc.