Identification and prenatal diagnosis of a novel NIPBL mutation underlying Cornelia De Lange syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 910-913, 2019.
Artigo
em Chinês
| WPRIM
| ID: wpr-776777
ABSTRACT
OBJECTIVE@#To explore the genetic basis for an infant featuring developmental delay, hand deformity and hypertonia of extremities.@*METHODS@#Clinical data and peripheral blood samples of the proband and her parents were collected. Following DNA extraction, potential mutations were screened on an Ion PGM platform using a gene panel. Suspected mutation was verified by PCR and Sanger sequencing.@*RESULTS@#A novel heterozygous nonsense mutation, c.2521C>T(p.R841X), was identified in the NIPBL gene. The mutation may cause premature termination of translation of the adhesion protein loading factor at 841st amino acids. The same mutation was not found in her parents and 931 healthy controls, and was absent from public databases including ExAC and 1000G. Bioinformatic analysis suggested the mutation to be disease causing.@*CONCLUSION@#The c.2521C>T (p.R841X) mutation of the NIPBL gene probably underlies the Cornelia De Lange syndrome in the infant. Prenatal diagnosis may be provided to this family upon their subsequent pregnancy.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Diagnóstico Pré-Natal
/
Proteínas
/
Síndrome de Cornélia de Lange
/
Diagnóstico
/
Genética
/
Heterozigoto
/
Mutação
Tipo de estudo:
Estudo diagnóstico
/
Estudo prognóstico
Limite:
Feminino
/
Humanos
/
Lactente
/
Gravidez
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2019
Tipo de documento:
Artigo
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