Analysis of ADNP gene variant in a child with Helsmoortel-van der Aa syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 428-432, 2022.
Article
in Chinese
| WPRIM (Western Pacific)
| ID: wpr-928435
Responsible library:
WPRO
ABSTRACT
OBJECTIVE@#To explore the genetic basis for a child manifesting with intellectual disability, language delay and autism spectrum disorder.@*METHODS@#Genomic DNA was extracted from peripheral blood samples of the child and his family members, and subjected to whole exome sequencing. Candidate variants were verified by Sanger sequencing and interpreted according to the guidelines of the American College of Medical Genetics and Genomics.@*RESULTS@#The child was found to harbor a heterozygous c.568C>T (p.Q190X) nonsense variant of the ADNP gene, which was not detected in either parent by Sanger sequencing.@*CONCLUSION@#The clinical and genetic testing both suggested that the child has Helsmoortel-van der Aa syndrome due to ADNP gene mutation, which is extremely rare in China.
Full text:
Available
Database:
WPRIM (Western Pacific)
Main subject:
Autistic Disorder
/
Abnormalities, Multiple
/
Homeodomain Proteins
/
Rare Diseases
/
Autism Spectrum Disorder
/
Heterozygote
/
Intellectual Disability
/
Mutation
/
Nerve Tissue Proteins
Type of study:
Practice guideline
Limits:
Child
/
Humans
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2022
Document type:
Article