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Brachmann‐de Lange syndrome with congenital diaphragmatic hernia and NIPBL gene mutation
Author(s) -
Hosokawa Shinichi,
Takahashi Nobumasa,
Kitajima Hiroyuki,
Nakayama Masahiro,
Kosaki Kenjirou,
Okamoto Nobuhiko
Publication year - 2010
Publication title -
congenital anomalies
Language(s) - English
Resource type - Journals
eISSN - 1741-4520
pISSN - 0914-3505
DOI - 10.1111/j.1741-4520.2010.00270.x
Subject(s) - congenital diaphragmatic hernia , medicine , mutation , diaphragmatic hernia , genetics , pediatrics , hernia , gene , general surgery , biology , pregnancy , fetus
We report herein a case of Brachmann‐de Lange syndrome complicated with congenital diaphragmatic hernia in which a NIPBL gene mutation was identified. A female infant born at 37 weeks of gestation died 134 min after delivery, even though endotracheal intubation and resuscitation were performed immediately after the scheduled caesarean operation. We diagnosed the infant with Brachmann‐de Lange syndrome from her physical characteristics. An abnormal peak at the 29th exon in the translation area of the NIPBL gene was detected using denaturing high‐performance liquid chromatography. In addition, a mutation of cytosine to thymine (nonsense mutation) at the 5524th base was identified using the direct sequence method. This variation was likely the cause of the syndrome.