A case of Antley-Bixler syndrome caused by novel POR mutations / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 1025-1027, 2019.
Artigo
em Chinês
| WPRIM
| ID: wpr-776751
ABSTRACT
OBJECTIVE@#To explore the genetic basis for a child affected with multiple malformations.@*METHODS@#Genomic DNA was extracted from peripheral blood samples from the child and her parents. Tro whole exome sequencing and bioinformatics analysis were carried out. Suspicted mutations were verified by PCR and Sanger sequencing.@*RESULTS@#The patient, a 2-year-old girl, presented with multiple malformations including dysmorphism, skeletal malformations and ambigulous genitalia. Through genetic testing, she was diagnosed with Antley-Bixler syndrome caused by compound heterozygous mutations of the POR gene (c.919G>T and c.1615G>A), which were derived from her mother and father, respectively.@*CONCLUSION@#The compound heterozygous mutations of the POR gene probably underlie the Antley-Bixler syndrome in this patient.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Anormalidades Múltiplas
/
Sistema Enzimático do Citocromo P-450
/
Fenótipo de Síndrome de Antley-Bixler
/
Sequenciamento do Exoma
/
Genética
/
Mutação
Limite:
Criança, pré-escolar
/
Feminino
/
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2019
Tipo de documento:
Artigo
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