| Brachmann-de Lange syndrome with congenital diaphragmatic hernia and NIPBL gene mutation. | |
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MedLine Citation:
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PMID: 20156239 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Shinichi Hosokawa; Nobumasa Takahashi; Hiroyuki Kitajima; Masahiro Nakayama; Kenjirou Kosaki; Nobuhiko Okamoto |
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Publication Detail:
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Type: Case Reports; Journal Article Date: 2010-02-11 |
Journal Detail:
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Title: Congenital anomalies Volume: 50 ISSN: 1741-4520 ISO Abbreviation: Congenit Anom (Kyoto) Publication Date: 2010 Jun |
Date Detail:
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Created Date: 2010-06-28 Completed Date: 2010-09-27 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9306292 Medline TA: Congenit Anom (Kyoto) Country: Japan |
Other Details:
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Languages: eng Pagination: 129-32 Citation Subset: IM |
Affiliation:
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Department of Neonatology, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan. sinhoso@mac.com |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Codon, Nonsense De Lange Syndrome / genetics*, mortality Female Hernia, Diaphragmatic / congenital, genetics Humans Infant, Newborn Mutation Pregnancy Proteins / genetics* Ultrasonography, Prenatal Young Adult |
| Chemical | |
Reg. No./Substance:
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0/Codon, Nonsense; 0/NIPBL protein, human; 0/Proteins |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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