Breakpoint delineation in 5p- patients leads to new insights about microcephaly and the typical high-pitched cry
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Citações na Scopus
4
Tipo de produção
article
Data de publicação
2020
Título da Revista
ISSN da Revista
Título do Volume
Editora
WILEY
Citação
MOLECULAR GENETICS & GENOMIC MEDICINE, v.8, n.2, article ID e957, 8p, 2020
Resumo
Background Cri du chat syndrome (CdCS) is a rare syndrome caused by a partial or complete deletion of the short arm of chromosome 5 (5p-). The main clinical features include a high-pitched cry, facial asymmetry, microcephaly, round face at birth, epicanthal folds, hypotonia, delayed growth and development. Methods We studied 14 Brazilian patients with CdCS using genomic array in order to better define the 5p breakpoints and recognize copy number variations (CNVs) that contribute to clinical manifestations associated with the syndrome. Results Array confirmed terminal deletions in 13 patients and an interstitial deletion in one patient. It was also possible to map the breakpoints and associate a genomic region of 4.7 Mb to the development of head circumference and cat-like cry. We also found other CNVs concomitant to the 5p deletion including a 9p duplication, a 17q deletion, and a 22q deletion in three different patients. Conclusion With advancements of molecular cytogenomic methods in the last two decades, it was possible to evidence cryptic alterations and improve the genotype-phenotype correlation. In this work, we describe a new genomic region associated with microcephaly and cat-like cry and highlight the importance of precise delineation of 5p deletion breakpoints and detection of other CNVs in CdCS patients to improve genotype-phenotype correlation to perform a complete clinical and molecular diagnosis.
Palavras-chave
Brazilian patients, cri du chat, cytogenomic, genomic array
Referências
- Ballif BC, 2004, HUM GENET, V114, P198, DOI 10.1007/s00439-003-1029-y
- Duan YT, 2014, ELIFE, V3, DOI 10.7554/eLife.04390
- Elmakky A, 2014, EUR J MED GENET, V57, P145, DOI 10.1016/j.ejmg.2014.02.005
- Santo LDE, 2016, BIOMED RES INT, DOI 10.1155/2016/5467083
- GERSH M, 1995, AM J HUM GENET, V56, P1404
- Kearney HM, 2011, GENET MED, V13, P680, DOI 10.1097/GIM.0b013e3182217a3a
- Kondoh T, 2005, J HUM GENET, V50, P26, DOI 10.1007/s10038-004-0213-9
- Kuang DB, 2017, J CLIN PHARM THER, V42, P554, DOI 10.1111/jcpt.12549
- Lincoln-de-Carvalho CR, 2011, AM J MED GENET A, V155A, P450, DOI 10.1002/ajmg.a.33458
- Mainardi PC, 2006, EUR J MED GENET, V49, P363, DOI 10.1016/j.ejmg.2005.12.004
- Mainardi PC, 2001, J MED GENET, V38, P151, DOI 10.1136/jmg.38.3.151
- Marinescu RC, 2000, AM J MED GENET, V94, P153, DOI 10.1002/1096-8628(20000911)94:2<153::AID-AJMG8>3.0.CO;2-#
- Marinescu RC, 1999, AM J MED GENET, V86, P66, DOI 10.1002/(SICI)1096-8628(19990903)86:1<66::AID-AJMG13>3.0.CO;2-N
- Marinescu RC, 1999, CLIN GENET, V56, P282
- Medina M, 2000, GENOMICS, V63, P157, DOI 10.1006/geno.1999.6090
- Nakagami Y, 2015, EPILEPTIC DISORD, V17, P485, DOI 10.1684/epd.2015.0780
- Nakayama T, 2012, SEIZURE-EUR J EPILEP, V21, P295, DOI 10.1016/j.seizure.2012.01.002
- 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
- OVERHAUSER J, 1994, HUM MOL GENET, V3, P247, DOI 10.1093/hmg/3.2.247
- Stern JM, 1996, NEUROLOGY, V47, P821, DOI 10.1212/WNL.47.3.821
- Van Buggenhout GJCM, 2000, AM J MED GENET, V90, P203, DOI 10.1002/(SICI)1096-8628(20000131)90:3<203::AID-AJMG5>3.0.CO;2-A
- Wu QF, 2005, EUR J HUM GENET, V13, P475, DOI 10.1038/sj.ejhg.5201345
- Yokoyama E, 2018, MOL CYTOGENET, V11, DOI 10.1186/s13039-018-0374-4
- Zanardo EA, 2017, CLINICS, V72, P526, DOI 10.6061/clinics/2017(09)02
- Zhang AJ, 2003, AM J HUM GENET, V72, P940, DOI 10.1086/374565
- Zhang B, 2016, AM J MED GENET A, V170, P583, DOI 10.1002/ajmg.a.37445
- Zhang XX, 2005, AM J HUM GENET, V76, P312, DOI 10.1086/427762