[Analysis of ADNP gene variant in a child with Helsmoortel-van der Aa syndrome].
Copyright policy )[Analysis of ADNP gene variant in a child with Helsmoortel-van der Aa syndrome].
To explore the genetic basis for a child manifesting with intellectual disability, language delay and autism spectrum disorder.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.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.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.
- Shandong Women’s University China (People's Republic of)
- Jinan Central Hospital China (People's Republic of)
Homeodomain Proteins, Heterozygote, Autism Spectrum Disorder, Nerve Tissue Proteins, Rare Diseases, Intellectual Disability, Mutation, Humans, Abnormalities, Multiple, Autistic Disorder, Child
Homeodomain Proteins, Heterozygote, Autism Spectrum Disorder, Nerve Tissue Proteins, Rare Diseases, Intellectual Disability, Mutation, Humans, Abnormalities, Multiple, Autistic Disorder, Child
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