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[The phenomenon of genomic "imprinting" and its implications in clinical neuropediatrics]
J Campos-Castelló1, G Bueno-Lozano, M T de Santos-Moreno
1Departamento de Pediatría, Hospital Universitario San Carlos, Universidad Complutense, Madrid, España.
Objective:
We comment on the most important advances related to the phenomenon of genomic 'imprinting' in clinical paediatric neurology.
Development:
Initially, we review the biological findings related to this subject and establish various concepts. Later, we attempt to clarify the different mechanisms of expression of the phenomenon 'imprinting' and its application in clinical practice. We give a detailed review of the various neurological disorders in which this genetic phenomenon has been involved to date. Finally, we attempt to determine when this genetic alteration should be suspected and which molecular biology techniques should be used to confirm the diagnosis.
Conclusions:
1. Clinical diagnosis suspecting that the presence of genomic 'imprinting' may be the mechanism causing a particular pathology should be based on a family tree showing that both sexes and all generations are affected and that the severity of the same disease varies among different members of the same family; 2. Study strategy includes studying the methylation pattern of the DNA. If there are changes in this, PCR should be done to show the exact pattern of the alteration.