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The patients were all minimally verbal or nonverbal and had variable neurological problems including spastic quadriplegia, ataxia, nystagmus, seizures, autism, and self-injurious behaviors. Additional common clinical features include dysmorphic facial features and feeding difficulties associated with failure to thrive and short stature. The <jats:italic>AHDC1<\/jats:italic> gene has only one coding exon, and the protein contains conserved regions including AT-hook motifs and a PDZ binding domain. We postulate that all seven variants detected in these patients result in a truncated protein missing critical functional domains, disrupting interactions with other proteins important for brain development. Our study demonstrates that truncating variants in <jats:italic>AHDC1<\/jats:italic> are associated with ID and are primarily associated with a neurodevelopmental phenotype.<\/jats:p>","DOI":"10.1101\/mcs.a000562","type":"journal-article","created":{"date-parts":[[2015,10,5]],"date-time":"2015-10-05T18:28:38Z","timestamp":1444069718000},"page":"a000562","source":"Crossref","is-referenced-by-count":35,"title":["De novo truncating variants in the <i>AHDC1<\/i> gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay"],"prefix":"10.1101","volume":"1","author":[{"given":"Hui","family":"Yang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ganka","family":"Douglas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristin 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