Analysis of a child with holoprosencephaly due to variant of SIX3 gene / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 656-658, 2021.
Artigo
em Chinês
| WPRIM
| ID: wpr-888368
ABSTRACT
OBJECTIVE@#To explore the genetic basis of a child with holoprosencephaly.@*METHODS@#Genomic DNA of the child was extracted and subjected to whole exome sequencing. Suspected variant was verified by Sanger sequencing of her family members.@*RESULTS@#Cranial MRI suggested lobulated holoprosencephaly with partial absence of corpus callosum. Genetic testing revealed that she has carried a heterozygous c.517C>G (p.His173Asp) variant of the SIX3 gene, for which both of her parents were of wild type. Based on the American College of Medical Genetics and Genomics guidelines, the c.517C>G variant of SIX3 gene was predicted to be pathogenic (PS2+PM1+PM2+PM5+PP3).@*CONCLUSION@#The SIX3 gene c.517C>G variant probably underlay the multiple malformations in this child. Above finding has enabled her definite diagnosis.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Família
/
Holoprosencefalia
/
Sequenciamento do Exoma
/
Heterozigoto
/
Mutação
Tipo de estudo:
Guia de Prática Clínica
/
Estudo prognóstico
Limite:
Criança
/
Feminino
/
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2021
Tipo de documento:
Artigo
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