Genetic variant analysis of a neonate with Cornelia de Lange syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 449-451, 2020.
Artigo
em Chinês
| WPRIM
| ID: wpr-826558
ABSTRACT
OBJECTIVE@#To detect pathogenic variant in a neonate suspected for Cornelia de Lange syndrome (CdLS).@*METHODS@#Potential mutations of CdLS-related genes (NIPBL, SMC1A, SMC3, RAD21 and HDAC8) were detected by high-throughput target region capture and next-generation sequencing. Suspected variants was verified by Sanger sequencing.@*RESULTS@#The child was found to harbor a heterozygous splice site variant, c.6109-1G>A, of the NIPBL gene. Sanger sequencing suggested that neither parent has carried the same variant, suggesting that it was de novo. The variant was unreported by HGMD and ExAC database, and was predicted to alter an acceptor splicing site. No pathogenic variants of SMC1A, SMC3, RAD21 and HDAC8 genes were detected.@*CONCLUSION@#The heterozygous c.6109-1G>A splicing variant of the NIPBL gene may underlie the disease in this child. Above finding has expanded the variant spectrum of the NIPBL gene.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Fenótipo
/
Variação Genética
/
Testes Genéticos
/
Proteínas de Ciclo Celular
/
Síndrome de Cornélia de Lange
/
Sequenciamento de Nucleotídeos em Larga Escala
/
Genética
/
Mutação
Tipo de estudo:
Estudo prognóstico
Limite:
Humanos
/
Recém-Nascido
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2020
Tipo de documento:
Artigo
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