PMID- 14630905
OWN - NLM
STAT- MEDLINE
DCOM- 20040902
LR  - 20220409
IS  - 0022-0345 (Print)
IS  - 0022-0345 (Linking)
VI  - 82
IP  - 12
DP  - 2003 Dec
TI  - MSX1 gene is deleted in Wolf-Hirschhorn syndrome patients with oligodontia.
PG  - 1013-7
AB  - Abnormalities of the short arm of chromosome 4 cause multiple congenital 
      malformations, including craniofacial, oral, and dental manifestations. A 
      candidate gene for oral defects in this region is MSX1, which is mandatory for 
      normal oral and tooth development. We examined the dentition and the presence of 
      MSX1 in eight Finnish patients with abnormalities of 4p, including seven cases of 
      Wolf-Hirschhorn syndrome. Five of the Wolf-Hirschhorn syndrome patients presented 
      with agenesis of several teeth, suggesting that oligodontia may be a common (even 
      though previously not well-documented) feature in Wolf-Hirschhorn syndrome. In 
      fluorescence in situ hybridization (FISH) analysis, the five patients with 
      oligodontia lacked one copy of MSX1, while the other three had two hybridization 
      signals. One of these presented with the only case of cleft palate among the 
      patients. Our result confirms that haploinsufficiency for MSX1 serves as a 
      mechanism that causes selective tooth agenesis but, alone, is not enough to cause 
      oral clefts.
FAU - Nieminen, P
AU  - Nieminen P
AD  - Institute of Dentistry, Biomedicum, PO Box 63, FIN-00014 University of Helsinki, 
      Finland. pekka.nieminen@helsinki.fi
FAU - Kotilainen, J
AU  - Kotilainen J
FAU - Aalto, Y
AU  - Aalto Y
FAU - Knuutila, S
AU  - Knuutila S
FAU - Pirinen, S
AU  - Pirinen S
FAU - Thesleff, I
AU  - Thesleff I
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - J Dent Res
JT  - Journal of dental research
JID - 0354343
RN  - 0 (Homeodomain Proteins)
RN  - 0 (MSX1 Transcription Factor)
RN  - 0 (Transcription Factors)
SB  - IM
MH  - Abnormalities, Multiple/genetics
MH  - Adolescent
MH  - Adult
MH  - Anodontia/genetics
MH  - Child
MH  - Child, Preschool
MH  - Chromosomes, Human, Pair 4/*genetics
MH  - Cleft Palate/genetics
MH  - Craniofacial Abnormalities/*genetics
MH  - Female
MH  - Finland
MH  - *Gene Deletion
MH  - Haploidy
MH  - Homeodomain Proteins/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - MSX1 Transcription Factor
MH  - Male
MH  - Mutation/genetics
MH  - Syndrome
MH  - Tooth Abnormalities/*genetics
MH  - Transcription Factors/*genetics
EDAT- 2003/11/25 05:00
MHDA- 2004/09/03 05:00
CRDT- 2003/11/25 05:00
PHST- 2003/11/25 05:00 [pubmed]
PHST- 2004/09/03 05:00 [medline]
PHST- 2003/11/25 05:00 [entrez]
AID - 10.1177/154405910308201215 [doi]
PST - ppublish
SO  - J Dent Res. 2003 Dec;82(12):1013-7. doi: 10.1177/154405910308201215.