Document Detail


Sudden infant death syndrome is not associated with the mutation of PHOX2B gene, a major causative gene of congenital central hypoventilation syndrome.
MedLine Citation:
PMID:  15185974     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Sudden infant death syndrome (SIDS) is a major cause of infant death, but its etiology is unknown. There are several independent risk factors for SIDS, and prone sleeping is a major risk factor. SIDS is probably based on a compromise in arousal response to breathing or blood pressure during sleep. Congenital central hypoventilation syndrome (CCHS or Ondine's curse) is a disorder characterized by an idiopathic failure of the autonomic control of breathing and has been regarded as one of the compromised conditions in SIDS. Recently, mutations of the PHOX2B gene have been detected in half to two-thirds of CCHS patients. We therefore analyzed the PHOX2B gene in 23 cases of SIDS and did not find any mutations, except for three polymorphic nucleotidic substitutions. The mutation of PHOX2B is thus not likely associated with SIDS.
Authors:
Kazuki Kijima; Ayako Sasaki; Takao Niki; Kazuo Umetsu; Motoki Osawa; Ryoji Matoba; Kiyoshi Hayasaka
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  The Tohoku journal of experimental medicine     Volume:  203     ISSN:  0040-8727     ISO Abbreviation:  Tohoku J. Exp. Med.     Publication Date:  2004 May 
Date Detail:
Created Date:  2004-06-09     Completed Date:  2004-12-21     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0417355     Medline TA:  Tohoku J Exp Med     Country:  Japan    
Other Details:
Languages:  eng     Pagination:  65-8     Citation Subset:  IM    
Affiliation:
Departments of Pediatrics, Yamagata University School of Medicine, Yamagata 990-9585, Japan.
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MeSH Terms
Descriptor/Qualifier:
Female
Homeodomain Proteins / genetics*
Humans
Hypoventilation / congenital*,  genetics*
Infant
Male
Mutation / genetics*
Polymorphism, Genetic / genetics
Sudden Infant Death / genetics*
Syndrome
Transcription Factors / genetics*
Chemical
Reg. No./Substance:
0/Homeodomain Proteins; 0/NBPhox protein; 0/Transcription Factors

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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