Characterization of a de novo balanced translocation in a patient with moderate mental retardation and dysmorphic features |
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Authors: | Marie-Reine Haddad Cécile Mignon-Ravix Pierre Cacciagli André Mégarbané Laurent Villard |
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Affiliation: | 1. Department of Pediatrics, University of Cincinnati, Cincinnati Children''s Hospital Medical Center, Howard Hughes Medical Institute, Cincinnati, OH 45229, USA;2. Department of Psychiatry, Yale University School of Medicine, New Haven, CT 06520 USA;1. Yunnan Key Laboratory of Stem Cell and Regenerative Medicine, Institute of Molecular and Clinical Medicine, Kunming Medical University, Kunming city 650500, Yunnan, China;2. School of Pharmaceutical Science, Kunming Medical University, Kunming City 650500, Yunnan, China;3. Experiment Enter for Medical Science Research, Kunming Medical University, Kunming City 650500, Yunnan, China;4. School of Basic Medical Sciences, Kunming Medical University, Kunming City 650500, Yunnan, China;5. Department of Hepatobiliary Surgery, The second Affiliated Hospital, Kunming Medical University, Kunming City 650106, Yunnan, China;6. Faculty of Education and Management, Yunnan Normal University, Kunming City 650500, Yunnan, China;7. Department of Anatomy and Developmental Biology, Monash University, Clayton 3800, Australia |
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Abstract: | 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. |
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