En la página web de Decipher, puede consultarse un listado actualizado con todos los síndromes de microdelección y microduplicación.
Cada vez más síndromes de microduplicación y microdelección han ido identificándose a lo largo de los últimos años, con el uso creciente del aCGH en la investigación y la práctica clínica. Pueden clasificarse en función de varios criterios:
Criterio de recurrencia.
CNV recurrentes
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1.
Pös O, Radvanszky J, Buglyó G, Pös Z, Rusnakova D, Nagy B, et al. DNA copy number variation: Main characteristics, evolutionary significance, and pathological aspects. Biomedical Journal [Internet]. 2021 Oct 1 [cited 2022 Aug 17];44(5):548–59. Available from: https://www.sciencedirect.com/science/article/pii/S2319417021000093
- Están flanqueadas por regiones repetitivas cortas (LCR, low copy repeats), que frecuentemente dan lugar a puntos de ruptura por NAHR (non-allelic homologous recombination).
- Múltiples indivíduos no emparentados comparten los mismos puntos de ruptura.
- Suelen ser de novo.
- Se presentan con mayor frecuencia a la esperada por la tasa de mutación, por lo que son comparativamente más frecuentes.
CNV no recurrentes.
- Suelen dar lugar a fenotipos más variables.
- Tienen puntos de ruptura distintos para cada individuo/familia, que se han producido de forma aleatoria a lo largo del genoma, dando lugar a la delección-duplicación cuando han intervenido los mecanismos de reparación (NHEJ, non homologous end-joining).
- Suelen ser heredadas, por lo que los puntos de ruptura serán característicos de cada familia.
- Existe una región compartida en todos los indivíduos con el mismo síndrome (SRO, smallest region of overlap), que alberga a los genes con repercusión fenotípica.
- Son menos frecuentes.
Criterio de penetrancia
CNV de penetrancia completa
- Son síndromes “clásicos”, que se describieron a partir de la identificación del fenotipo clínico.
- Suelen nombrarse con un epónimo que alude al autor que los describió por primera vez.
- Suelen ser “de novo”, ya que la repercusión que producen sobre los indivíduos impide su reproducción.
- Coloca el ratón sobre la imagen para buscar algunos de los distintos síndromes de microdelección clásicos.
CNV de penetrancia incompleta
- Suelen nombrarse con la región cromosómica a la que afectan.
- Son síndromes “nuevos”, identificados con más frecuencia a partir de la implementación de técnicas de diagnóstico molecular (aCGH).
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1.
Rosenfeld JA, Coe BP, Eichler EE, Cuckle H, Shaffer LG. Estimates of penetrance for recurrent pathogenic copy-number variations. Genetics in Medicine [Internet]. 2013 [cited 2018 July 16];15(6):478–81. Available from: http://www.nature.com/articles/gim2012164
- Tienen penetrancia incompleta, por lo que hay indivíduos portadores asintomáticos, y se produce con mayor frecuencia la transmisión familiar desde un indivíduo que no era consciente de su condición.
- Además, es más frecuente que se produzca la coexistencia de múltiples variantes patogénicas en el mismo indivíduo.
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