Artículos de revistas
Distal 22q11.2 Microduplication Combined With Typical 22q11.2 Proximal Deletion: A Case Report
Registro en:
American Journal Of Medical Genetics, Part A. Wiley-liss Inc., v. 167, n. 1, p. 215 - 220, 2015.
15524825
10.1002/ajmg.a.36809
2-s2.0-84919608832
Autor
Molck M.C.
Vieira T.P.
Simioni M.
Sgardioli I.C.
Santos A.P.dos.
Xavier A.C.
Gil-da-Silva-Lopes V.L.
Institución
Resumen
The 22q11 chromosomal region contains low copy repeats (LCRs) sequences that mediate non-allelic homologous recombination, which predisposes to copy number variations (CNVs) at this locus. Hemizygous deletions of the proximal 22q11.2 region result in the 22q11.2 deletion syndrome (22q11.2 DS). In addition, 22q11.2 duplications involving the distal LCR22s have been reported. This article describes a patient presenting a 2.5-Mb de novo deletion at proximal 22q11.21 region (between LCRs A-D), combined with a 1.3-Mb maternally inherited duplication at distal 22q11.23 region (between LCRs F-H). The presence of concomitant chromosomal imbalances found in this patient has not been reported previously. Clinical and molecular data were compared with literature, in order to contribute to genotype-phenotype correlation. These findings exemplify the complexity and genetic heterogeneity observed in 22q11.2 deletion syndrome and highlights the difficulty to make genetic counseling and predict phenotypic consequences in these situations. 167 1 215 220 Capra, V., Mascelli, S., Garrè, M.L., Nozza, P., Vaccari, C., Bricco, L., Sloan-Béna, F., Tassano, E., Parental imbalances involvin chromosomes 15q and 22q may predispose to the formation of de novo pathogenic microdeletions and microduplications in the offspring (2013) PLoS ONE, 8, p. e57910 Coppinger, J., McDonald-McGinn, D., Zackai, E., Shane, K., Atkin, J.F., Asamoah, A., Leland, R., Shaffer, L.G., Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region (2009) Hum Mol Genet, 18, pp. 1377-1383 Day, J.J., Sweatt, J.D., Epigenetic mechanisms in cognition (2011) Neuron, 70, pp. 813-829 Descartes, M., Franklin, J., de Stahl, T.D., Piotrowski, A., Bruder, C.E., Dumanski, J.P., Carroll, A.J., Mikhail, F.M., Distal 22q11.2 microduplication encompassing the BCR gene (2008) Am J Med Genet Part A, 146 A, pp. 3075-3081 Edelmann, L., Pandita, R.K., Morrow, B.E., Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome (1999) Am J Hum Genet, 64, pp. 1076-1086 Edelmann, L., Pandita, R.K., Spiteri, E., Funke, B., Goldberg, R., Palanisamy, N., Chaganti, R.S., Morrow, B.E., A common molecular basis for rearrangement disorders on chromosome 22q11 (1999) Hum Mol Genet, 8, pp. 1157-1167 Fernández, L., Nevado, J., Santos, F., Heine-Suner, D., Martinez-Glez, V., García-Miñaur, S., Palomo, R., Lapunzina, P., A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review (2009) BMC Med Genet, 10, p. 48 Khan, D.H., Jahan, S., Davie, J.R., Pre-mRNA splicing: Role of epigenetics and implications in disease (2012) Adv Biol Regul, 52, pp. 377-388 Kleefstra, T., Kramer, J.M., Neveling, K., Willemsen, M.H., Koemans, T.S., Vissers, L.E., Wissink-Lindhout, W., van Bokhoven, H., Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability (2012) Am J Hum Genet, 91, pp. 73-82 Kobrynski, L.J., Sullivan, K.E., Velocardiofacial syndrome, DiGeorge syndrome: The chromosome 22q11.2 deletion syndromes (2007) Lancet, 370, pp. 1443-1452 McDonald-McGinn, D.M., Kirschner, R., Goldmuntz, E., Sullivan, K., Eicher, P., Gerdes, M., Moss, E., Zackai, E.H., The Philadelphia story: The 22q11.2 deletion: report on 250 patients (1999) Genet Couns, 10, pp. 11-24 Molck, M.C., Vieira, T.P., Sgardioli, I.C., Simioni, M., dos Santos, A.P., Souza, J., Monteiro, F.P., Gil-da-Silva-Lopes, V.L., Atypical copy number abnormalities in 22q11.2 region: Report of three cases (2013) Eur J Med Genet, 56, pp. 515-520 Monteiro, F.P., Vieira, T.P., Sgardioli, I.C., Molck, M.C., Damiano, A.P., Souza, J., Monlleó, I.L., Gil-da-Silva-Lopes, V.L., Defining new guidelines for screening the 22q11. 2 deletion based on a clinical and dysmorphologic evaluation of 194 individual and review of literature (2013) Eur J Pediatr, 172, pp. 927-945 Ou, Z., Berg, J.S., Yonath, H., Enciso, V.B., Miller, D.T., Picker, J., Lenzi, T., Patel, A., Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes (2008) Genet Med, 10, pp. 267-277 Portnoï, M.F., Microduplication 22q11.2: A new chromosomal syndrome (2009) Eur J Med Genet, 52, pp. 88-93 Prasad, S.E., Howley, S., Murphy, K.C., Candidate genes and the behavioral phenotype in 22q11.2 deletion syndrome (2008) Dev Dis Res Rev., 14, pp. 26-34 Ribeiro-Bicudo, L.A., de Campos, L., Gamba, C., Candido, B.F., Sandri, R.M., Richieri-Costa, A., Cognitive deficit , learning difficulties, severe behavioral abnormalities and healed cleft lip in a patient with a 1.2-mb distal microduplication at 22q11.2 (2013) Mol Syndromol, 4, pp. 292-296 Saadi, I., Alkuraya, F.S., Gisselbrecht, S.S., Goessling, W., Cavallesco, R., Turbe-Doan, A., Petrin, A.L., Maas, R.L., Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting (2011) Am J Hum Genet, 89, pp. 44-55 Saitta, S.C., Harris, S.E., Gaeth, A.P., Driscoll, D.A., McDonald-McGinn, D.M., Maisenbacher, M.K., Yersak, J.M., Emanuel, B.S., Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion (2004) Hum Mol Genet, 13, pp. 417-428 Shaffer, L.G., Lupski, J.R., Molecular mechanisms for constitutional chromosomal rearrangements in humans (2000) Annu Rev Genet, 34. , 297-229 Shaikh, T.H., Kurahashi, H., Emanuel, B.S., Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: An update and literature review (2001) Genet Med, 3, pp. 6-13 Shaikh, T.H., Kurahashi, H., Saitta, S.C., O'Hare, A.M., Hu, P., Roe, B.A., Driscoll, D.A., Emanuel, B.S., Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: Genomic organization and deletion endpoint analysis (2000) Hum Mol Genet, 9, pp. 489-501 Shaikh, T.H., O'Connor, R.J., Pierpont, M.E., McGrath, J., Hacker, A.M., Nimmakayalu, M., Geiger, E., Saitta, S.C., Low copy repeats mediate distal chromosome 22q11.2 deletions: Sequence analysis predicts breakpoint mechanisms (2007) Genome Res, 17, pp. 482-491 Tan, T.Y., Collins, A., James, P.A., McGillivray, G., Stark, Z., Gordon, C.T., Leventer, R.J., Amor, D.J., Phenotypic variability of distal 22q11. 2 copy number abnormalities (2011) Am J Med Genet Part A, 155 A, pp. 1623-1633 Wentzel, C., Fernström, M., Öhrner, Y., Annerén, G., Thuresson, A.C., Clinical variability of the 22q11.2 duplication syndrome (2008) Eur J Med Genet, 51, pp. 501-510 Wincent, J., Bruno, D.L., van Bon, B.W., Bremer, A., Stewart, H., Bongers, E.M., Ockeloen, C.W., Schoumans, J., Sixteen new cases contributing to the characterization of patients with distal 22q11.2 microduplications (2010) Mol Syndromol, 1, pp. 246-254 van Bokhoven, H., Kramer, J.M., Disruption of the epigenetic code: An emerging mechanism in mental retardation (2010) Neurobiol Dis, 39, pp. 3-12 Yu, S., Graf, W.B., Shprintzen, R.J., Genomic disorders on chromosome 22 (2012) Curr Opin Pediatr, 24, pp. 665-671