Document Detail

Congenital central hypoventilation syndrome with hyperinsulinism in a preterm infant.
MedLine Citation:
PMID:  18340402     Owner:  NLM     Status:  MEDLINE    
Congenital central hypoventilation syndrome (CCHS), a rare disorder typically presenting in the newborn period, results in over 90% of cases from PHOX2B polyalanine repeat mutations. It is characterized by alveolar hypoventilation, symptoms of autonomic nervous system dysregulation, and in a subset of cases Hirschsprung's disease and, later, tumors of neural crest origin. We describe a preterm infant with severe phenotype of CCHS and hyperinsulinism. A novel de novo heterozygote missence mutation (Gly68Cys) in the PHOX2B gene could be identified. Based on the observation of three patients presenting with the combination of congenital hyperinsulinism and CCHS, hyperinsulinism might represent an additional clinical feature of CCHS.
Ulrike Hennewig; Berit Hadzik; Markus Vogel; Thomas Meissner; Timm Goecke; Hartmut Peters; Georg Selzer; Ertan Mayatepek; Thomas Hoehn
Publication Detail:
Type:  Case Reports; Journal Article     Date:  2008-03-14
Journal Detail:
Title:  Journal of human genetics     Volume:  53     ISSN:  1434-5161     ISO Abbreviation:  J. Hum. Genet.     Publication Date:  2008  
Date Detail:
Created Date:  2008-05-28     Completed Date:  2008-08-13     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9808008     Medline TA:  J Hum Genet     Country:  Japan    
Other Details:
Languages:  eng     Pagination:  573-7     Citation Subset:  IM    
Department of General Pediatrics, University Hospital Duesseldorf, Duesseldorf, Germany.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Amino Acid Sequence
Base Sequence
DNA, Complementary / genetics
Homeodomain Proteins / genetics
Infant, Newborn
Infant, Premature
Molecular Sequence Data
Mutation, Missense
Persistent Hyperinsulinemia Hypoglycemia of Infancy / complications,  genetics*
Sequence Homology, Amino Acid
Sleep Apnea, Central / complications,  genetics*
Transcription Factors / genetics
Reg. No./Substance:
0/DNA, Complementary; 0/Homeodomain Proteins; 0/NBPhox protein; 0/Transcription Factors

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

Previous Document:  Characterization of a thermostable dihydrodipicolinate synthase from Thermoanaerobacter tengcongensi...
Next Document:  Structural study on mutant alpha-L-iduronidases: insight into mucopolysaccharidosis type I.