Novel rearrangements between different chromosomes with direct impact on the diagnosis of 5p-syndrome
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Citações na Scopus
2
Tipo de produção
article
Data de publicação
2022
Título da Revista
ISSN da Revista
Título do Volume
Editora
ELSEVIER ESPANA
Autores
WOLFF, Beatriz Martins
ASSUNCAO, Nilson Antonio de
Citação
CLINICS, v.77, article ID 100045, 6p, 2022
Resumo
Objectives: Copy Number Variations (CNVs) in the human genome account for common populational variations but can also be responsible for genetic syndromes depending on the affected region. Although a deletion in 5p is responsible for a syndrome with highly recognizable phenotypical features, other chromosomal abnormalities might overlap phenotypes, especially considering that most studies in 5p use traditional cytogenetic techniques and not molecular techniques. Methods: The authors have investigated 29 patients with clinical suspicion of 5p- syndrome using Chromosomal Microarray (CMA), and have gathered information on previous tests, clinical signs, symptoms, and development of the patients. Results: The results showed 23 pure terminal deletions, one interstitial deletion, one deletion followed by a 3 Mb duplication in 5p, three cases of 5p deletion concomitant to duplications larger than 20 Mb in chromosomes 2,9, and 18, and one 5p deletion with a chromosome Y deletion. CMA showed relevant CNVs not typically associated with 5p- that may have contributed to the final phenotype in these patients. Conclusions: The authors have identified three novel rearrangements between chromosomes 5 and 2 (Patient 27), 5 and 18 (Patient 11), and 5 and Y (Patient 22), with breakpoints and overlapped phenotypes that were not previously described. The authors also highlight the need for further molecular investigation using CMA, in different chromosomes beyond chromosome 5 (since those cases did not show only the typical deletion expected for the 5p- syndrome) to explain discordant chromosomal features and overlapped phenotypes to unravel the cause of the syndrome in atypical cases.
Palavras-chave
Genomic rearrangements, Microarray, 5p deletion, Copy number variation
Referências
- Ba W, 2016, HUM MOL GENET, V25, P892, DOI 10.1093/hmg/ddv618
- Cereda A, 2012, ORPHANET J RARE DIS, V7, DOI 10.1186/1750-1172-7-81
- Cervera M, 2005, AM J MED GENET A, V136A, P381, DOI 10.1002/ajmg.a.30791
- Chehimi SN, 2020, MOL GENET GENOM MED, V8, DOI 10.1002/mgg3.957
- Franchim CS, 2020, J ASSIST REPROD GEN, V37, P1251, DOI 10.1007/s10815-020-01777-8
- Fukushi D, 2017, AM J MED GENET A, V173, P2201, DOI 10.1002/ajmg.a.38313
- HIGURASHI M, 1990, BRAIN DEV-JPN, V12, P770, DOI 10.1016/S0387-7604(12)80004-0
- Hochstenbach R, 2021, EUR J HUM GENET, V29, P541, DOI 10.1038/s41431-020-00780-y
- Izzo A, 2012, EUR J MED GENET, V55, P140, DOI 10.1016/j.ejmg.2011.12.004
- Kluger G, 2013, NEUROPEDIATRICS, V44, P225, DOI 10.1055/s-0033-1333872
- Krgovic D, 2014, BMC MED GENET, V15, DOI 10.1186/1471-2350-15-21
- Lincoln-de-Carvalho CR, 2011, AM J MED GENET A, V155A, P450, DOI 10.1002/ajmg.a.33458
- Lu Q, 2016, HUM GENET, V135, P1107, DOI 10.1007/s00439-016-1705-3
- Mainardi PC, 2001, J MED GENET, V38, P151, DOI 10.1136/jmg.38.3.151
- Medina M, 2000, GENOMICS, V63, P157, DOI 10.1006/geno.1999.6090
- Megarbane A, 1997, J MED GENET, V34, P783, DOI 10.1136/jmg.34.9.783
- Nguyen JM, 2015, AM J MED GENET C, V169, P224, DOI 10.1002/ajmg.c.31444
- NIEBUHR E, 1978, HUM GENET, V44, P227, DOI 10.1007/BF00394291
- Novo GM, 2016, CYTOGENET GENOME RES, V149, P241, DOI 10.1159/000448905
- Pan Q, 2016, PLOS ONE, V11, DOI 10.1371/journal.pone.0154574
- Riggs ER, 2020, GENET MED, V22, P245, DOI 10.1038/s41436-019-0686-8
- Shichiji M, 2013, AM J MED GENET A, V161A, P850, DOI 10.1002/ajmg.a.35768
- Tao T, 2019, J GENET GENOMICS, V46, P87, DOI 10.1016/j.jgg.2019.02.003
- Verrotti A, 2015, SEIZURE-EUR J EPILEP, V32, P78, DOI 10.1016/j.seizure.2015.09.013
- VIGNETTI P, 1977, CLIN GENET, V12, P319
- Wang K, 2009, NATURE, V459, P528, DOI 10.1038/nature07999
- WEBER B, 1987, HUM GENET, V77, P145, DOI 10.1007/BF00272382