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

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

Research output: Contribution to journalArticle

6 Citations (Scopus)

Abstract

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
Volume50
Issue number2
DOIs
Publication statusPublished - 2010
Externally publishedYes

Fingerprint

De Lange Syndrome
Mutation
Thymine
Intratracheal Intubation
Nonsense Codon
Cytosine
Resuscitation
Genes
Exons
High Pressure Liquid Chromatography
Pregnancy
Congenital Diaphragmatic Hernias

Keywords

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

ASJC Scopus subject areas

  • Developmental Biology
  • Pediatrics, Perinatology, and Child Health
  • Embryology
  • Medicine(all)

Cite this

Brachmann-de Lange syndrome with congenital diaphragmatic hernia and NIPBL gene mutation. / Hosokawa, Shinichi; Takahashi, Nobumasa; Kitajima, Hiroyuki; Nakayama, Masahiro; Kosaki, Kenjiro; Okamoto, Nobuhiko.

In: Congenital Anomalies, Vol. 50, No. 2, 2010, p. 129-132.

Research output: Contribution to journalArticle

Hosokawa, Shinichi ; Takahashi, Nobumasa ; Kitajima, Hiroyuki ; Nakayama, Masahiro ; Kosaki, Kenjiro ; Okamoto, Nobuhiko. / Brachmann-de Lange syndrome with congenital diaphragmatic hernia and NIPBL gene mutation. In: Congenital Anomalies. 2010 ; Vol. 50, No. 2. pp. 129-132.
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