Loss-of-function of activity-dependent neuroprotective protein (ADNP) by a splice-acceptor site mutation causes Helsmoortel–Van der Aa syndrome

• Published in: European journal of human genetics : EJHG Vol. 32; no. 6; pp. 630 - 638
• Main Authors: D’Incal, Claudio Peter, Annear, Dale John, Elinck, Ellen, van der Smagt, Jasper J., Alders, Mariëlle, Dingemans, Alexander J. M., Mateiu, Ligia, de Vries, Bert B. A., Vanden Berghe, Wim, Kooy, R. Frank
• Format: Journal Article
• Language: English
• Published: England Nature Publishing Group 01.06.2024; Springer International Publishing
• Subjects: ADNP protein; Animal models; Autism; Autism Spectrum Disorder; Autistic Disorder - genetics; Autistic Disorder - pathology; Cell culture; Cell lines; Child, Preschool; Cytoskeleton; Developmental Disabilities - genetics; Developmental Disabilities - pathology; Diagnosis; DNA Methylation; Facies; Female; Gene deletion; Genomes; Genomic analysis; Haploinsufficiency; Heart Diseases; HEK293 Cells; Homeodomain Proteins - genetics; Homeodomain Proteins - metabolism; Humans; Locomotion; Loss of Function Mutation; Mutation; Nerve Tissue Proteins - genetics; Nerve Tissue Proteins - metabolism; Neurodevelopmental Disorders; Neuroprotection; Pattern recognition; RNA Splice Sites; Transcriptomes; Transfection; Whole genome sequencing

Mutations in ADNP result in Helsmoortel-Van der Aa syndrome. Here, we describe the first de novo intronic deletion, affecting the splice-acceptor site of the first coding ADNP exon in a five-year-old girl with developmental delay and autism. Whereas exome sequencing failed to detect the non-coding d...