PMID- 10647898
OWN - NLM
STAT- MEDLINE
DCOM- 20000216
LR  - 20190722
IS  - 0340-6717 (Print)
IS  - 0340-6717 (Linking)
VI  - 105
IP  - 6
DP  - 1999 Dec
TI  - Genes and chromosomal breakpoints in the Langer-Giedion syndrome region on human 
      chromosome 8.
PG  - 619-28
AB  - The tricho-rhino-phalangeal syndrome type II (TRPS II, or Langer-Giedion
      syndrome) is an example of contiguous gene syndromes, as it comprises the
      clinical features of two autosomal dominant diseases, TRPS I and a form of
      multiple cartilaginous exostoses caused by mutations in the EXT1 gene. We have
      constructed a contig of cosmid, lambda-phage, PAC, and YAC clones, which covers
      the entire TRPS I critical region. Using these clones we identified a novel
      submicroscopic deletion in a TRPS I patient and refined the proximal border of
      the minimal TRPS1 gene region by precisely mapping the inversion breakpoint of
      another patient. As a first step towards a complete inventory of genes in the
      Langer-Giedion syndrome chromosome region (LGCR) with the ultimate aim to
      identify the TRPS1 gene, we analyzed 23 human expressed sequence tags (ESTs) and 
      four genes (EIF3S3, RAD21, OPG, CXIV) which had been assigned to human 8q24.1.
      Our analyses indicate that the LGCR is gene-poor, because none of the ESTs and
      genes map to the minimal TRPS1 gene region and only two of these genes, RAD21 and
      EIF3S3, are located within the shortest region of deletion overlap of TRPS II
      patients. Two genes, OPG and CXIV, which are deleted only in some patients with
      TRPS II may contribute to the clinical variability of this syndrome.
FAU - Ludecke, H J
AU  - Ludecke HJ
AD  - Institut fur Humangenetik, Universitatsklinikum, Essen, Germany.
      hj.luedecke@uni-essen.de
FAU - Schmidt, O
AU  - Schmidt O
FAU - Nardmann, J
AU  - Nardmann J
FAU - von Holtum, D
AU  - von Holtum D
FAU - Meinecke, P
AU  - Meinecke P
FAU - Muenke, M
AU  - Muenke M
FAU - Horsthemke, B
AU  - Horsthemke B
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Germany
TA  - Hum Genet
JT  - Human genetics
JID - 7613873
SB  - IM
MH  - Child
MH  - Chromosome Breakage/genetics
MH  - Chromosomes, Human, Pair 8/*genetics
MH  - Contig Mapping
MH  - Cosmids
MH  - Electrophoresis, Gel, Pulsed-Field
MH  - Expressed Sequence Tags
MH  - Female
MH  - Gene Deletion
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Langer-Giedion Syndrome/*genetics
MH  - Male
MH  - Polymerase Chain Reaction
EDAT- 2000/01/27 09:00
MHDA- 2000/02/19 09:00
CRDT- 2000/01/27 09:00
PHST- 2000/01/27 09:00 [pubmed]
PHST- 2000/02/19 09:00 [medline]
PHST- 2000/01/27 09:00 [entrez]
AID - 10.1007/s004399900176 [doi]
PST - ppublish
SO  - Hum Genet. 1999 Dec;105(6):619-28. doi: 10.1007/s004399900176.