PMID- 10429361
OWN - NLM
STAT- MEDLINE
DCOM- 19990916
LR  - 20061115
IS  - 1434-5161 (Print)
IS  - 1434-5161 (Linking)
VI  - 44
IP  - 4
DP  - 1999
TI  - Germline mutations in the EXT1 and EXT2 genes in Korean patients with hereditary 
      multiple exostoses.
PG  - 230-4
AB  - Hereditary multiple exostoses (EXT) is an autosomal dominantly inherited disease 
      characterized by the formation of cartilage-capped prominences (exostoses) that
      develop from the juxtaepiphyseal regions of the long bones. Recently, EXT1 and
      EXT2 genes were cloned and germline mutations of EXT1 and EXT2 were identified in
      EXT families. In this study, we performed a mutational analysis of EXT1 and EXT2 
      genes in eight unrelated Korean EXT families by polymerase chain reaction
      (PCR)-single strand conformation polymorphism (SSCP) analysis followed by direct 
      DNA sequencing. As a result, we were able to identify one family (SNU-OC3) with
      the EXT1 mutation and another family (SNU-OC15) with the EXT2 mutation. The EXT1 
      mutation was a 10-bp deletion at the 3' end of exon 5 (CTAATTTAGg) including the 
      splice site of this exon. The EXT2 mutation identified in the SNU-OC15 family was
      a missense mutation at codon 85 of exon 2 (TGC-->CGC), resulting in an amino acid
      change from cysteine to arginine. This missense mutation cosegregated with the
      disease phenotype in this family, suggesting that it is the disease-causing
      mutation. These two mutations identified in EXT1 and EXT2 are novel ones.
FAU - Park, K J
AU  - Park KJ
AD  - Korean Hereditary Tumor Registry, Seoul National University College of Medicine, 
      Korea.
FAU - Shin, K H
AU  - Shin KH
FAU - Ku, J L
AU  - Ku JL
FAU - Cho, T J
AU  - Cho TJ
FAU - Lee, S H
AU  - Lee SH
FAU - Choi, I H
AU  - Choi IH
FAU - Phillipe, C
AU  - Phillipe C
FAU - Monaco, A P
AU  - Monaco AP
FAU - Porter, D E
AU  - Porter DE
FAU - Park, J G
AU  - Park JG
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - J Hum Genet
JT  - Journal of human genetics
JID - 9808008
RN  - 0 (Proteins)
RN  - EC 2.4.1.- (N-Acetylglucosaminyltransferases)
RN  - EC 2.4.1.224 (exostosin-1)
RN  - EC 2.4.1.224 (exostosin-2)
SB  - IM
MH  - Child, Preschool
MH  - Exostoses, Multiple Hereditary/*genetics
MH  - Female
MH  - Gene Deletion
MH  - *Germ-Line Mutation
MH  - Humans
MH  - Korea
MH  - Male
MH  - Mutation, Missense
MH  - *N-Acetylglucosaminyltransferases
MH  - Pedigree
MH  - Polymorphism, Single-Stranded Conformational
MH  - Proteins/*genetics
EDAT- 1999/08/03 00:00
MHDA- 1999/08/03 00:01
CRDT- 1999/08/03 00:00
PHST- 1999/08/03 00:00 [pubmed]
PHST- 1999/08/03 00:01 [medline]
PHST- 1999/08/03 00:00 [entrez]
AID - 10.1007/s100380050149 [doi]
PST - ppublish
SO  - J Hum Genet. 1999;44(4):230-4. doi: 10.1007/s100380050149.