PMID- 16829355
OWN - NLM
STAT- MEDLINE
DCOM- 20060928
LR  - 20171116
IS  - 1769-7212 (Print)
IS  - 1769-7212 (Linking)
VI  - 49
IP  - 4
DP  - 2006 Jul-Aug
TI  - Genomic analysis of five chromosome 7p deletion patients with Greig 
      cephalopolysyndactyly syndrome (GCPS).
PG  - 338-45
AB  - Chromosomal deletions on chromosome 7p are associated with Greig 
      cephalopolysyndactyly syndrome (GCPS, OMIM 175700) a syndrome affecting the 
      development of the skull, face, and limbs. We have compared data from molecular 
      cytogenetic and genetic analyses with clinical symptoms from five previously 
      published GCPS deletion patients, including a pair of monozygotic twins. The 
      genomic DNA of the probands and their parents, as well as the DNA from 
      monoallelic cell lines of two patients, was analyzed using microsatellite 
      markers. In some cases (e.g. where the microsatellite studies were uninformative) 
      we also used fluorescence in situ hybridization (FISH) with bacterial artificial 
      chromosomes (BAC) probes. The fine mapping results of the deletions and genomic 
      data from chromosome 7, were compared to the clinical symptoms. Common breakpoint 
      sequences or mutation hotspots were not observed. Mutation screening for PGAM2, 
      which is responsible for a form of myopathy with recessive inheritance, was 
      performed in all patients. Loss of heterozygosity for known genes with dominant 
      inheritance, such as the glucokinase gene (GCK), which, when mutated or 
      haploinsufficient, is responsible for maturity-onset diabetes of the young, type 
      II (MODY2, OMIM 125851), was identified and included in a genetic counseling of 
      the patients' families.
FAU - Schwarzbraun, Thomas
AU  - Schwarzbraun T
AD  - Institute of Medical Biology and Human Genetics, Medical University of Graz, Graz 
      8010, Austria.
FAU - Windpassinger, Christian
AU  - Windpassinger C
FAU - Ofner, Lisa
AU  - Ofner L
FAU - Vincent, John B
AU  - Vincent JB
FAU - Cheung, Joseph
AU  - Cheung J
FAU - Scherer, Stephen W
AU  - Scherer SW
FAU - Wagner, Klaus
AU  - Wagner K
FAU - Kroisel, Peter M
AU  - Kroisel PM
FAU - Petek, Erwin
AU  - Petek E
LA  - eng
SI  - OMIM/125851
SI  - OMIM/175700
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20051128
PL  - Netherlands
TA  - Eur J Med Genet
JT  - European journal of medical genetics
JID - 101247089
RN  - 0 (GLI3 protein, human)
RN  - 0 (Kruppel-Like Transcription Factors)
RN  - 0 (Nerve Tissue Proteins)
RN  - 0 (Zinc Finger Protein Gli3)
RN  - EC 2.7.1.2 (Glucokinase)
SB  - IM
MH  - Abnormalities, Multiple/*genetics
MH  - *Chromosome Deletion
MH  - *Chromosomes, Human, Pair 7
MH  - Craniofacial Abnormalities/*genetics
MH  - Genetic Techniques
MH  - Genome
MH  - Glucokinase/genetics
MH  - Humans
MH  - Kruppel-Like Transcription Factors/genetics
MH  - Limb Deformities, Congenital/*genetics
MH  - Microsatellite Repeats
MH  - Nerve Tissue Proteins/genetics
MH  - Syndrome
MH  - Zinc Finger Protein Gli3
EDAT- 2006/07/11 09:00
MHDA- 2006/09/29 09:00
CRDT- 2006/07/11 09:00
PHST- 2005/08/18 00:00 [received]
PHST- 2005/10/28 00:00 [accepted]
PHST- 2006/07/11 09:00 [pubmed]
PHST- 2006/09/29 09:00 [medline]
PHST- 2006/07/11 09:00 [entrez]
AID - S1769-7212(05)00269-7 [pii]
AID - 10.1016/j.ejmg.2005.10.133 [doi]
PST - ppublish
SO  - Eur J Med Genet. 2006 Jul-Aug;49(4):338-45. doi: 10.1016/j.ejmg.2005.10.133. Epub 
      2005 Nov 28.