A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual Disability
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Citações na Scopus
1
Tipo de produção
article
Data de publicação
2018
Título da Revista
ISSN da Revista
Título do Volume
Editora
NATURE PUBLISHING GROUP
Autores
DUTRA, R. L.
LLERENA JR., J. C.
ACOSTA, A. X.
MEDEIROS, P. F. V.
GALERA, M. F.
Citação
SCIENTIFIC REPORTS, v.8, article ID 13382, 8p, 2018
Resumo
Genomic imbalances are the most common cause of congenital anomalies (CA) and intellectual disability (ID). The aims of this study were to identify copy number variations (CNVs) in 416 patients with CA and ID from 5 different genetics centers within 4 different states by using the Multiplex Ligation-dependent Probe Amplification (MLPA) technique and to apply the chromosomal microarray (CMA) methodology in selected cases. The samples were analyzed by MLPA kits P064, P036, P070 and P250. Positive results were found in 97/416 (23.3%) patients. CMA was applied in 14 selected cases. In 6/14 (42.85%) patients, CMA detected other copy number variations not detected by the MLPA studies. Although CMA is indispensable for genotype refinement, the technique is still unfeasible in some countries as a routine analysis due to economic and technical limitations. In these cases, clinical evaluation followed by karyotyping and MLPA analysis is a helpful and affordable solution for diagnostic purposes.
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Referências
- Bergemann AD, 2005, TRENDS GENET, V21, P188, DOI 10.1016/j.tig.2005.01.008
- Boggula VR, 2014, INDIAN J MED RES, V139, P66
- Carvalho CMB, 2009, HUM MOL GENET, V18, P2188, DOI 10.1093/hmg/ddp151
- Christofolini DM, 2010, J INTELL DISABIL RES, V54, P938, DOI 10.1111/j.1365-2788.2010.01325.x
- de Ravel TJL, 2006, CYTOGENET GENOME RES, V115, P225, DOI 10.1159/000095918
- de Vries BBA, 2003, J MED GENET, V40, P385, DOI 10.1136/jmg.40.6.385
- Dutra RL, 2015, AM J MED GENET A, V167, P3197, DOI 10.1002/ajmg.a.37360
- Edelmann L, 2009, ANN NY ACAD SCI, V1151, P157, DOI 10.1111/j.1749-6632.2008.03610.x
- Feuk L, 2006, HUM MOL GENET, V15, pR57, DOI 10.1093/hmg/ddl057
- Freeman JL, 2006, GENOME RES, V16, P949, DOI 10.1101/gr.3677206
- Henrichsen CN, 2009, HUM MOL GENET, V18, pR1, DOI 10.1093/hmg/ddp011
- Hochstenbach R, 2009, EUR J MED GENET, V52, P161, DOI 10.1016/j.ejmg.2009.03.015
- Honjo RS, 2012, J GENET GENOMICS, V39, P571, DOI 10.1016/j.jgg.2012.07.001
- Jehee FS, 2011, EUR J MED GENET, V54, pE425, DOI 10.1016/j.ejmg.2011.03.007
- Kirby RS, 2017, SEMIN PERINATOL, V41, P338, DOI 10.1053/j.semperi.2017.07.004
- Krantz ID, 2007, AM J MED GENET C, V145C, P323, DOI 10.1002/ajmg.c.30150
- Ledbetter DH, 2007, AM J MED GENET C, V145C, P327, DOI 10.1002/ajmg.c.30149
- LEJEUNE J., 1959, ARCH FRANC PEDIATRIE, V16, P962
- Liu PF, 2012, CURR OPIN GENET DEV, V22, P211, DOI 10.1016/j.gde.2012.02.012
- Manning M, 2010, GENET MED, V12, P742, DOI 10.1097/GIM.0b013e3181f8baad
- Miller DT, 2010, AM J HUM GENET, V86, P749, DOI 10.1016/j.ajhg.2010.04.006
- Monteiro RAC, 2017, MOL SYNDROMOL, V8, P227, DOI 10.1159/000477226
- Pinto D, 2007, HUM MOL GENET, V16, pR168, DOI 10.1093/hmg/ddm241
- Pohovski LM, 2013, MOL CYTOGENET, V6, DOI 10.1186/1755-8166-6-7
- Ravnan JB, 2006, J MED GENET, V43, P478, DOI 10.1136/jmg.2005.036350
- Resta N, 2012, J MATERN-FETAL NEO M, V25, P124, DOI 10.3109/14767058.2012.715004
- Robinson WP, 2000, CLIN GENET, V57, P349, DOI 10.1034/j.1399-0004.2000.570505.x
- Rodriguez L, 2008, CLIN DYSMORPHOL, V17, P5, DOI 10.1097/MCD.0b013e3282efef43
- Schaaf CP, 2011, LANCET, V377, P555, DOI 10.1016/S0140-6736(11)60201-8
- Shoukier M, 2013, CLIN GENET, V83, P53, DOI 10.1111/j.1399-0004.2012.01850.x
- Siggberg L, 2012, BMC MED GENET, V13, DOI 10.1186/1471-2350-13-84
- Slavotinek AM, 2008, HUM GENET, V124, P1, DOI 10.1007/s00439-008-0513-9
- Stankiewicz P, 2007, CURR OPIN GENET DEV, V17, P182, DOI 10.1016/j.gde.2007.04.009
- van Karnebeek CDM, 2005, EUR J HUM GENET, V13, P6, DOI 10.1038/sj.ejhg.5201279
- Vissers LELM, 2010, J MED GENET, V47, P289, DOI 10.1136/jmg.2009.072942