PMID- 19379847
OWN - NLM
STAT- MEDLINE
DCOM- 20091102
LR  - 20111117
IS  - 1878-0849 (Electronic)
IS  - 1769-7212 (Linking)
VI  - 52
IP  - 4
DP  - 2009 Jul-Aug
TI  - Characterization of a de novo balanced translocation in a patient with moderate 
      mental retardation and dysmorphic features.
PG  - 211-7
LID - 10.1016/j.ejmg.2009.04.002 [doi]
AB  - Moderate mental retardation (MR) could affect up to 3% of the general population. 
      A proportion of these cases has a genetic origin. Genes responsible for mental 
      retardation can be identified taking advantage of familial cases or patients 
      carrying a chromosomal rearrangement. We have studied a female patient with mild 
      mental retardation and dysmorphic features. Cytogenetic and molecular 
      investigations revealed a de novo balanced translocation 46, XX, 
      t(5;18)(q21.3;q21.32) in the patient. The karyotypes of the parents are normal. 
      We mapped the breakpoints of the translocation on chromosomes 5 and 18 by 
      fluorescence in situ hybridization (FISH). The characterization of the 
      chromosomal breakpoints helped us identify a new candidate region containing a 
      portion of a gene. This gene is called FER. It is a tyrosine kinase located on 
      the chromosome 5q21.3. We found no known genes in the genomic region 
      corresponding to the BAC spanning the 18q21.32 breakpoint. Molecular analysis 
      showed that the FER gene was not interrupted by the translocation breakpoint on 
      chromosome 5. Real-time quantitative PCR performed using RNA from the patient, 
      compared to her parents and controls, showed no significant modification of FER 
      expression ruling out a putative position effect, at least in the tissue tested. 
      Our data suggest that FER is not implicated in the mental retardation phenotype 
      observed in the reported patient. Therefore the MR phenotype might not be caused 
      by the translocation.
FAU - Haddad, Marie-Reine
AU  - Haddad MR
AD  - INSERM U910, faculte de medecine de la Timone, Marseille, France.
FAU - Mignon-Ravix, Cecile
AU  - Mignon-Ravix C
FAU - Cacciagli, Pierre
AU  - Cacciagli P
FAU - Megarbane, Andre
AU  - Megarbane A
FAU - Villard, Laurent
AU  - Villard L
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20090418
PL  - Netherlands
TA  - Eur J Med Genet
JT  - European journal of medical genetics
JID - 101247089
RN  - 110736-90-8 (proto-oncogene protein c-fes-fps)
RN  - EC 2.7.10.1 (Protein-Tyrosine Kinases)
SB  - IM
MH  - Base Sequence
MH  - Chromosome Aberrations
MH  - Chromosome Breakage
MH  - Chromosome Painting
MH  - Chromosomes, Artificial, Bacterial
MH  - *Chromosomes, Human, Pair 18
MH  - *Chromosomes, Human, Pair 5
MH  - Comparative Genomic Hybridization
MH  - Consanguinity
MH  - Face/*abnormalities
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Intellectual Disability/*genetics
MH  - Karyotyping
MH  - Molecular Sequence Data
MH  - Physical Chromosome Mapping
MH  - Protein-Tyrosine Kinases/genetics
MH  - *Translocation, Genetic
EDAT- 2009/04/22 09:00
MHDA- 2009/11/03 06:00
CRDT- 2009/04/22 09:00
PHST- 2008/08/18 00:00 [received]
PHST- 2009/04/02 00:00 [accepted]
PHST- 2009/04/22 09:00 [entrez]
PHST- 2009/04/22 09:00 [pubmed]
PHST- 2009/11/03 06:00 [medline]
AID - S1769-7212(09)00037-8 [pii]
AID - 10.1016/j.ejmg.2009.04.002 [doi]
PST - ppublish
SO  - Eur J Med Genet. 2009 Jul-Aug;52(4):211-7. doi: 10.1016/j.ejmg.2009.04.002. Epub 
      2009 Apr 18.