Identification of a GNB1 gene variant in a child with autosomal dominant mental retardation 42 / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 565-568, 2021.
Article
in Chinese
| WPRIM
| ID: wpr-879627
ABSTRACT
OBJECTIVE@#To explore the genetic basis for a child featuring global developmental delay.@*METHODS@#DNA was extracted from peripheral blood sample taken from the patient and subjected to whole exome sequencing. Suspected variants were verified by Sanger sequencing of his family members.@*RESULTS@#A heterozygous c.239T>C (p.Ile80Thr) variant of the GNB1 gene was detected in the proband, which was a verified to be de novo in origin.@*CONCLUSION@#The heterozygous c.239T>C (p.Ile80Thr) variant of the GNB1 gene probably underlay the disease in this child.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Arthrogryposis
/
Family
/
GTP-Binding Protein beta Subunits
/
Exome Sequencing
/
Heterozygote
/
Intellectual Disability
Type of study:
Diagnostic study
Limits:
Child
/
Humans
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2021
Type:
Article
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