PMID- 11840487
OWN - NLM
STAT- MEDLINE
DCOM- 20020626
LR  - 20190906
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 107
IP  - 4
DP  - 2002 Feb 1
TI  - Idiopathic congenital central hypoventilation syndrome: evaluation of 
      brain-derived neurotrophic factor genomic DNA sequence variation.
PG  - 306-10
AB  - Idiopathic congenital central hypoventilation syndrome (CCHS) is an unique 
      disorder of respiratory control, occurring in association with Hirschsprung 
      disease (HSCR), tumors of neural crest origin, and symptoms of autonomic nervous 
      system dysfunction (ANSD). CCHS is thought to be genetic in origin based upon 1) 
      affected sib pairs, 2) genetic analysis, and 3) identification of genetic 
      mutations in both HSCR and CCHS patients. Because these mutations have been found 
      in but a few cases of CCHS, exploration of other candidate genes has continued. 
      Brain-derived neurotrophic factor (BDNF) represents a potential candidate gene to 
      consider because of altered respiratory control in the BDNF knock-out mouse model 
      and localization to the enteric nervous system in human tissue. The objective of 
      this study was to determine the frequency of BDNF mutations among 19 children 
      with CCHS (five with HSCR) compared to 40 unaffected unrelated controls. Using 
      the known genomic DNA sequence for BDNF, polymerase chain reaction 
      (PCR)-amplified genomic DNA was analyzed by standard sequencing methods. A 
      discrete mutation was identified in one of 19 children with isolated CCHS and the 
      unaffected father. Specifically, an isoleucine was substituted for a threonine or 
      serine in the amino acid sequence. Absence of this mutation in 40 controls 
      confirmed that this mutation was likely not a common polymorphism. These data 
      further support a genetic basis for CCHS, though mutations of BDNF are not 
      consistent in this disorder.
CI  - Copyright 2001 Wiley-Liss, Inc.
FAU - Weese-Mayer, Debra E
AU  - Weese-Mayer DE
AD  - Department of Pediatrics, Rush Children's Hospital at Rush-Presbyterian-St. 
      Luke's Medical Center, Rush University, Chicago, Illinois, USA. dweese@rush.edu
FAU - Bolk, Stacey
AU  - Bolk S
FAU - Silvestri, Jean M
AU  - Silvestri JM
FAU - Chakravarti, Aravinda
AU  - Chakravarti A
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
RN  - 0 (Brain-Derived Neurotrophic Factor)
SB  - IM
MH  - Autonomic Nervous System Diseases
MH  - Brain-Derived Neurotrophic Factor/*genetics
MH  - Child
MH  - *Genetic Variation
MH  - Humans
MH  - Hypoventilation/*genetics
MH  - Mutation
MH  - Sequence Analysis, DNA
MH  - Syndrome
EDAT- 2002/02/13 10:00
MHDA- 2002/06/27 10:01
CRDT- 2002/02/13 10:00
PHST- 2002/02/13 10:00 [pubmed]
PHST- 2002/06/27 10:01 [medline]
PHST- 2002/02/13 10:00 [entrez]
AID - 10.1002/ajmg.10133 [pii]
AID - 10.1002/ajmg.10133 [doi]
PST - ppublish
SO  - Am J Med Genet. 2002 Feb 1;107(4):306-10. doi: 10.1002/ajmg.10133.