PMID- 16470700
OWN - NLM
STAT- MEDLINE
DCOM- 20060530
LR  - 20231105
IS  - 1552-4825 (Print)
IS  - 1552-4833 (Electronic)
IS  - 1552-4825 (Linking)
VI  - 140
IP  - 6
DP  - 2006 Mar 15
TI  - A 9-year-old male with a duplication of chromosome 3p25.3p26.2: clinical report 
      and gene expression analysis.
PG  - 573-9
AB  - We describe a 9-year-old male referred for genetic evaluation for Prader-Willi 
      syndrome (PWS). PWS is the most common genetically defined cause of 
      life-threatening obesity and results from a functional loss of paternally 
      expressed genes from the chromosome 15q11-q13 region. The patient presented with 
      pervasive developmental disorder, delayed speech, and rapid onset of obesity at 
      age 4 years, all features similar to PWS. However, chromosome 15q11-q13 
      methylation testing and fragile X studies were normal. GTG-banding and 
      fluorescence in situ hybridization (FISH) with whole chromosome 3 paint probe 
      (WCP3) and a chromosome 3p subtelomeric probe suggested a duplication of 
      3p25.3p26.2, a finding supported by comparative genomic hybridization (CGH). This 
      region of chromosome 3p contains genes which contribute to obesity and behavioral 
      problems, most notably, ghrelin (GHRL), an oxytocin receptor (OXTR), solute 
      carrier family six members (gamma-aminobutyric acid (GABA) neurotransmitter 
      transporters, SLC6A1 and SLC6A11), and peroxisome proliferator-activated receptor 
      gamma (PPARG). To characterize these obesity and behavior related genes in our 
      subject, we performed quantitative RT-PCR and compared expression levels with 
      similarly aged male subjects (four non-obese males, four obese males, and four 
      PWS males-two with 15q11-q13 deletions and two with maternal disomy 15). Our 
      studies suggest increased expression of several genes in the 3p duplication 
      region, including GHRL and PPARG, which may contribute to the phenotypic features 
      in our 3p duplication subject.
CI  - 2006 Wiley-Liss, Inc.
FAU - Bittel, Douglas C
AU  - Bittel DC
AD  - Children's Mercy Hospitals and Clinics, University of Missouri-Kansas City School 
      of Medicine, Kansas City, Missouri 64108, USA.
FAU - Kibiryeva, Nataliya
AU  - Kibiryeva N
FAU - Dasouki, Majed
AU  - Dasouki M
FAU - Knoll, Joan H M
AU  - Knoll JH
FAU - Butler, Merlin G
AU  - Butler MG
LA  - eng
GR  - R01 HD041672/HD/NICHD NIH HHS/United States
GR  - R01 HD041672-05/HD/NICHD NIH HHS/United States
GR  - R01HD41672/HD/NICHD NIH HHS/United States
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
RN  - 0 (GABA Plasma Membrane Transport Proteins)
RN  - 0 (PPAR gamma)
RN  - 0 (SLC6A1 protein, human)
RN  - 0 (SLC6A11 protein, human)
SB  - IM
MH  - Child
MH  - *Chromosome Aberrations
MH  - Chromosome Banding
MH  - Chromosomes, Human, Pair 3/*genetics
MH  - GABA Plasma Membrane Transport Proteins/genetics
MH  - Gene Duplication
MH  - Gene Expression/genetics
MH  - Genome, Human
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Nucleic Acid Hybridization/methods
MH  - PPAR gamma/genetics
MH  - Prader-Willi Syndrome/diagnosis/*genetics
MH  - Up-Regulation/genetics
PMC - PMC2568077
MID - NIHMS68077
EDAT- 2006/02/14 09:00
MHDA- 2006/05/31 09:00
PMCR- 2008/10/16
CRDT- 2006/02/14 09:00
PHST- 2006/02/14 09:00 [pubmed]
PHST- 2006/05/31 09:00 [medline]
PHST- 2006/02/14 09:00 [entrez]
PHST- 2008/10/16 00:00 [pmc-release]
AID - 10.1002/ajmg.a.31132 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2006 Mar 15;140(6):573-9. doi: 10.1002/ajmg.a.31132.