PMID- 16319696
OWN - NLM
STAT- MEDLINE
DCOM- 20060203
LR  - 20191109
IS  - 1052-9551 (Print)
IS  - 1052-9551 (Linking)
VI  - 14
IP  - 4
DP  - 2005 Dec
TI  - Quantitative real-time polymerase chain reaction (RQ-PCR) for the rapid detection 
      of SHOX haploinsufficiency in Leri-Weill Syndrome.
PG  - 247-9
AB  - The short stature homeobox-containing (SHOX) gene, found on the human sex 
      chromosomes, has a role in bone growth and height determination. 
      Haploinsufficiency of the SHOX gene is believed to be responsible for poor growth 
      such as that observed in ther Leri-Weill syndrome (LWS). This is the first report 
      of the study of SHOX gene copy number by the technique of quantitative real-time 
      polymerase chain reaction (RQ-PCR) in 9 patients with LWS. Only 7 patients (78%) 
      of LWS had one copy of the SHOX gene deleted, but 2 patients (12%) have neither a 
      single copy gene deletion nor point mutation after direct sequencing of all 7 
      exons. Although the majority of patients with LWS in this study have SHOX gene 
      haploinsufficiency, there are some patients with both copies of the SHOX gene 
      intact with absence of any point mutations in the coding region. This may be due 
      to abnormalities in the upstream promoter, or to the effect of other candidate 
      gene mutations. RQ-PCR is a faster and cheaper method of studying SHOX sing-copy 
      deletions compared with the conventional fluorescence in situ hybridization 
      (FISH), and is recommended for the detection of SHOX gene haploinsufficiency.
FAU - Tan, Yuen-Ming
AU  - Tan YM
AD  - Department of Paediatrics, National University of Singapore, Singapore. 
      medp0199@nus.edu.sg
FAU - Loke, Kah-Yin
AU  - Loke KY
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Diagn Mol Pathol
JT  - Diagnostic molecular pathology : the American journal of surgical pathology, part 
      B
JID - 9204924
RN  - 0 (Homeodomain Proteins)
RN  - 0 (SHOX protein, human)
RN  - 0 (Short Stature Homeobox Protein)
RN  - 0 (Transcription Factors)
SB  - IM
MH  - Abnormalities, Multiple/*genetics
MH  - Bone Development/genetics
MH  - Case-Control Studies
MH  - DNA Mutational Analysis
MH  - Female
MH  - *Gene Deletion
MH  - *Genes, Homeobox
MH  - Growth/*genetics
MH  - Growth Disorders/genetics
MH  - Homeodomain Proteins/*genetics
MH  - Humans
MH  - Osteochondrodysplasias/*genetics
MH  - Polymerase Chain Reaction
MH  - Short Stature Homeobox Protein
MH  - Transcription Factors/*genetics
MH  - Turner Syndrome/genetics
MH  - Upper Extremity Deformities, Congenital/genetics
EDAT- 2005/12/02 09:00
MHDA- 2006/02/04 09:00
CRDT- 2005/12/02 09:00
PHST- 2005/12/02 09:00 [pubmed]
PHST- 2006/02/04 09:00 [medline]
PHST- 2005/12/02 09:00 [entrez]
AID - 00019606-200512000-00008 [pii]
AID - 10.1097/01.pas.0000177794.27841.50 [doi]
PST - ppublish
SO  - Diagn Mol Pathol. 2005 Dec;14(4):247-9. doi: 10.1097/01.pas.0000177794.27841.50.