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.
Article
in Chinese
| 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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Family
/
Holoprosencephaly
/
Exome Sequencing
/
Heterozygote
/
Mutation
Type of study:
Practice guideline
/
Prognostic study
Limits:
Child
/
Female
/
Humans
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2021
Type:
Article
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