PMID- 10602114
OWN - NLM
STAT- MEDLINE
DCOM- 20000229
LR  - 20190905
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 90
IP  - 1
DP  - 2000 Jan 3
TI  - Variation in microdeletions of the cyclic AMP-responsive element-binding protein 
      gene at chromosome band 16p13.3 in the Rubinstein-Taybi syndrome.
PG  - 29-34
AB  - Most reported microdeletions of the CREB-binding protein (CBP) gene in the 
      Rubinstein-Taybi syndrome (RTS) were detected by fluorescence in situ 
      hybridization (FISH) with a single cosmid probe specific to the 3' region of the 
      gene. In order to test the hypothesis that the rate of microdeletion-positive 
      cases would be greater if the entire gene was evaluated, we performed FISH on 66 
      patients with an established diagnosis of RTS, using a panel of five cosmids that 
      span the CBP gene. Five of 66 patients had deletions by FISH (9%), consistent 
      with those rates reported in various series that ranged between 3-25%. Among our 
      cases, different deletions were observed; one was deleted for the 5' but not the 
      3' region of the CBP gene (case 055). Other deletions included a total CBP 
      deletion extending from the 5' through the 3' region (case 017), a deletion of 
      all but the 5' region (cases 006 and 060), and an interstitial deletion in the 3' 
      region (case 028). Fine breakpoint mapping with additional cosmid and yeast 
      artificial chromosome (YAC) constructs was performed on these patients. The 
      findings of a partial 5' deletion and of interstitial deletions of the CBP gene 
      add to the known spectrum of mutations of this gene in RTS and demonstrate the 
      need for evaluation of the entire CBP gene region for deletions rather than only 
      the 3' region in RTS patients. These results further suggest that the true rate 
      of microdeletion across the CBP gene detectable by FISH has yet to be established 
      firmly. No phenotypic differences between partial deletion, complete deletion, 
      and nondeletion patients were observed, supporting a haploinsufficiency model for 
      RSTS.
CI  - Copyright 2000 Wiley-Liss, Inc.
FAU - Blough, R I
AU  - Blough RI
AD  - Children's Hospital Research Foundation, Division of Human Genetics, Cincinnati, 
      OH 45229-1933, USA. blour0@chmcc.org
FAU - Petrij, F
AU  - Petrij F
FAU - Dauwerse, J G
AU  - Dauwerse JG
FAU - Milatovich-Cherry, A
AU  - Milatovich-Cherry A
FAU - Weiss, L
AU  - Weiss L
FAU - Saal, H M
AU  - Saal HM
FAU - Rubinstein, J H
AU  - Rubinstein JH
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
RN  - 0 (Cyclic AMP Response Element-Binding Protein)
SB  - IM
MH  - *Chromosomes, Human, Pair 16
MH  - Cyclic AMP Response Element-Binding Protein/*genetics
MH  - Female
MH  - *Genetic Variation
MH  - Genotype
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Metaphase
MH  - Phenotype
MH  - Rubinstein-Taybi Syndrome/*genetics/physiopathology
MH  - *Sequence Deletion
EDAT- 1999/12/22 09:00
MHDA- 2000/03/04 09:00
CRDT- 1999/12/22 09:00
PHST- 1999/12/22 09:00 [pubmed]
PHST- 2000/03/04 09:00 [medline]
PHST- 1999/12/22 09:00 [entrez]
AID - 10.1002/(SICI)1096-8628(20000103)90:1<29::AID-AJMG6>3.0.CO;2-Z [pii]
AID - 10.1002/(sici)1096-8628(20000103)90:1<29::aid-ajmg6>3.0.co;2-z [doi]
PST - ppublish
SO  - Am J Med Genet. 2000 Jan 3;90(1):29-34. doi: 
      10.1002/(sici)1096-8628(20000103)90:1<29::aid-ajmg6>3.0.co;2-z.