Brachmann-de Lange syndrome with congenital diaphragmatic hernia and NIPBL gene mutation

Shinichi Hosokawa, Nobumasa Takahashi, Hiroyuki Kitajima, Masahiro Nakayama, Kenjirou Kosaki, Nobuhiko Okamoto

Research output: Contribution to journalArticlepeer-review

14 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)129-132
Number of pages4
JournalCongenital anomalies
Issue number2
Publication statusPublished - 2010 Jun
Externally publishedYes


  • Brachmann-de Lange syndrome
  • Congenital diaphragmatic hernia
  • Denaturing high-performance liquid chromatography
  • Direct sequence method
  • Gene mutation

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Embryology
  • Developmental Biology


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