{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T06:08:50Z","timestamp":1788242930761,"version":"build-2803163510"},"reference-count":19,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2020,9,14]],"date-time":"2020-09-14T00:00:00Z","timestamp":1600041600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003968","name":"Iran National Science Foundation","doi-asserted-by":"publisher","award":["950022"],"award-info":[{"award-number":["950022"]}],"id":[{"id":"10.13039\/501100003968","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003968","name":"Iran National Science Foundation","doi-asserted-by":"publisher","award":["96.11200"],"award-info":[{"award-number":["96.11200"]}],"id":[{"id":"10.13039\/501100003968","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012155","name":"National Institute for Medical Research Development","doi-asserted-by":"publisher","award":["957060"],"award-info":[{"award-number":["957060"]}],"id":[{"id":"10.13039\/501100012155","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008974","name":"University of Social Welfare and Rehabilitation Sciences","doi-asserted-by":"publisher","award":["94\/801\/T\/29490"],"award-info":[{"award-number":["94\/801\/T\/29490"]}],"id":[{"id":"10.13039\/501100008974","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2021,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Mutations in adaptor protein complex\u20104 (AP\u20104) genes have first been identified in 2009, causing a phenotype termed as AP\u20104 deficiency syndrome. Since then several patients with overlapping phenotypes, comprised of intellectual disability (ID) and spastic tetraplegia have been reported. To delineate the genotype\u2010phenotype correlation of the AP\u20104 deficiency syndrome, we add the data from 30 affected individuals from 12 out of 640 Iranian families with ID in whom we detected disease\u2010causing variants in AP\u20104 complex subunits, using next\u2010generation sequencing. Furthermore, by comparing genotype\u2010phenotype findings of those affected individuals with previously reported patients, we further refine the genotype\u2010phenotype correlation in this syndrome. The most frequent reported clinical findings in the 101 cases consist of ID and\/or global developmental delay (97%), speech disorders (92.1%), inability to walk (90.1%), spasticity (77.2%), and microcephaly (75.2%). Spastic tetraplegia has been reported in 72.3% of the investigated patients. The major brain imaging findings are abnormal corpus callosum morphology (63.4%) followed by ventriculomegaly (44.5%). Our result might suggest the AP\u20104 deficiency syndrome as a major differential diagnostic for unknown hereditary neurodegenerative disorders.<\/jats:p>","DOI":"10.1111\/cge.13845","type":"journal-article","created":{"date-parts":[[2020,9,16]],"date-time":"2020-09-16T03:42:17Z","timestamp":1600227737000},"page":"187-192","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Comprehensive\n                    <scp>genotype\u2010phenotype<\/scp>\n                    correlation in\n                    <scp>AP<\/scp>\n                    \u20104 deficiency syndrome; Adding data from a large cohort of Iranian patients"],"prefix":"10.1111","volume":"99","author":[{"given":"Maryam","family":"Beheshtian","sequence":"first","affiliation":[{"name":"Genetics Research Center University of Social Welfare and Rehabilitation Sciences  Tehran 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