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All four previously identified IDDADF cases exhibit autistic behavior, with autism spectrum disorder (ASD) diagnosed in three cases. To determine whether autistic behavior is a common outcome of PDZD8 disruption, we studied a third family with biallelic mutation of <jats:italic>PDZD8<\/jats:italic> (family C) and further characterized PDZD8-deficient (<jats:italic>Pdzd8<\/jats:italic>\n              <jats:sup>\n                <jats:italic>tm1b<\/jats:italic>\n              <\/jats:sup>) mice that exhibit stereotyped motor behavior relevant to ASD.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods<\/jats:title>\n            <jats:p>Homozygosity mapping, whole-exome sequencing, and cosegregation analysis were used to identify the <jats:italic>PDZD8<\/jats:italic> variant responsible for IDDADF, including diagnoses of ASD, in consanguineous family C. To assess the in vivo effect of PDZD8 disruption on social responses and related phenotypes, behavioral, structural magnetic resonance imaging, and microscopy analyses were conducted on the <jats:italic>Pdzd8<\/jats:italic>\n              <jats:sup>\n                <jats:italic>tm1b<\/jats:italic>\n              <\/jats:sup> mouse line. Metabolic activity was profiled using sealed metabolic cages.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>The discovery of a third family with IDDADF caused by biallelic disruption of PDZD8 permitted identification of a core clinical phenotype consisting of developmental delay, ID, autism, and facial dysmorphism. In addition to impairments in social recognition and social odor discrimination, <jats:italic>Pdzd8<\/jats:italic>\n              <jats:sup>\n                <jats:italic>tm1b<\/jats:italic>\n              <\/jats:sup> mice exhibit increases in locomotor activity (dark phase only) and metabolic rate (both lights-on and dark phases), and decreased plasma triglyceride in males. In the brain, <jats:italic>Pdzd8<\/jats:italic>\n              <jats:sup>\n                <jats:italic>tm1b<\/jats:italic>\n              <\/jats:sup> mice exhibit increased levels of accessory olfactory bulb volume, primary olfactory cortex volume, dendritic spine density, and ER stress- and mitochondrial fusion-related transcripts, as well as decreased levels of cerebellar nuclei volume and adult neurogenesis.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Limitations<\/jats:title>\n            <jats:p>The total number of known cases of <jats:italic>PDZD8<\/jats:italic>-related IDDADF remains low. Some mouse experiments in the study did not use balanced numbers of males and females. The assessment of ER stress and mitochondrial fusion markers did not extend beyond mRNA levels.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusions<\/jats:title>\n            <jats:p>Our finding that the <jats:italic>Pdzd8<\/jats:italic>\n              <jats:sup>\n                <jats:italic>tm1b<\/jats:italic>\n              <\/jats:sup> mouse model and all six known cases of IDDADF exhibit autistic behavior, with ASD diagnosed in five cases, identifies this trait as a common outcome of biallelic disruption of PDZD8 in humans and mice. Other abnormalities exhibited by <jats:italic>Pdzd8<\/jats:italic>\n              <jats:sup>\n                <jats:italic>tm1b<\/jats:italic>\n              <\/jats:sup> mice suggest that the range of comorbidities associated with PDZD8 deficiency may be wider than presently recognized.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/s13229-025-00650-8","type":"journal-article","created":{"date-parts":[[2025,2,27]],"date-time":"2025-02-27T06:06:23Z","timestamp":1740636383000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Autistic behavior is a common outcome of biallelic disruption of PDZD8 in humans and mice"],"prefix":"10.1186","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6419-5298","authenticated-orcid":false,"given":"Andreea D.","family":"Pantiru","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3294-0668","authenticated-orcid":false,"given":"Stijn","family":"Van de Sompele","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5673-3009","authenticated-orcid":false,"given":"Clemence","family":"Ligneul","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-4731-2163","authenticated-orcid":false,"given":"Camille","family":"Chatelain","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4523-2898","authenticated-orcid":false,"given":"Christophe","family":"Barrea","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6164-2881","authenticated-orcid":false,"given":"Jason P.","family":"Lerch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8816-1559","authenticated-orcid":false,"given":"Beatrice M.","family":"Filippi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1677-0272","authenticated-orcid":false,"given":"Serpil","family":"Alkan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5609-6895","authenticated-orcid":false,"given":"Elfride","family":"De Baere","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9928-989X","authenticated-orcid":false,"given":"Jamie","family":"Johnston","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6662-5690","authenticated-orcid":false,"given":"Steven J.","family":"Clapcote","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,2,27]]},"reference":[{"key":"650_CR1","doi-asserted-by":"crossref","unstructured":"American Psychiatric Association. 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