{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,18]],"date-time":"2026-10-18T13:56:18Z","timestamp":1792331778324,"version":"4.4.0"},"reference-count":28,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2020,5,17]],"date-time":"2020-05-17T00:00:00Z","timestamp":1589673600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["RO1 NS35129"],"award-info":[{"award-number":["RO1 NS35129"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2020,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Primary microcephaly (PM) is a highly heterogeneous neurodevelopmental disorder with many contributing risk genes and loci identified to date. We report a consanguineous family with PM, intellectual disability and short stature. Using whole exome sequencing, we identified a homozygous frameshift variant in programmed cell death 6 interacting protein (\n                    <jats:italic>PDCD6IP<\/jats:italic>\n                    , c.154_158dup; p.Val54Profs*18). This gene,\n                    <jats:italic>PDCD6IP<\/jats:italic>\n                    , plays an important role in the endosomal sorting complexes required for transport (ESCRT) pathway in the abscission stage of cytokinesis and apoptosis, and is required for normal brain development in mice. The clinical features observed in our patient were similar to the phenotypes observed in mouse and zebrafish models of\n                    <jats:italic>PDCD6IP<\/jats:italic>\n                    mutations in previous studies. This study provides evidence that clinical manifestations of\n                    <jats:italic>PDCD6IP<\/jats:italic>\n                    mutations as seen in our patients with PM and ID may be a novel cause for neurodevelopmental disorders.\n                  <\/jats:p>","DOI":"10.1111\/cge.13756","type":"journal-article","created":{"date-parts":[[2020,4,14]],"date-time":"2020-04-14T09:55:04Z","timestamp":1586858104000},"page":"80-85","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["<scp>\n                      <i>PDCD6IP<\/i>\n                    <\/scp>\n                    , encoding a regulator of the\n                    <scp>ESCRT<\/scp>\n                    complex, is mutated in microcephaly"],"prefix":"10.1111","volume":"98","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4149-9544","authenticated-orcid":false,"given":"Amjad","family":"Khan","sequence":"first","affiliation":[{"name":"Developmental Medicine Department, King Abdullah International Medical Research Center (KAIMRC) King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNGHA)  Riyadh Saudi Arabia"},{"name":"Laboratoire d'ImmunoRhumatologie Mol\u00e9culaire, Plateforme GENOMAX, INSERM UMR_S 1109, Facult\u00e9 de M\u00e9decine, F\u00e9d\u00e9ration Hospitalo\u2010Universitaire OMICARE, F\u00e9d\u00e9ration de M\u00e9decine Translationnelle de Strasbourg (FMTS), LabEx TRANSPLANTEX Universit\u00e9 de Strasbourg  Strasbourg France"},{"name":"Service d'Immunologie Biologique, Plateau Technique de Biologie, P\u00f4le de Biologie, Nouvel H\u00f4pital Civil H\u00f4pitaux Universitaires de Strasbourg, 1 Place de l'H\u00f4pital  Strasbourg France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manal","family":"Alaamery","sequence":"additional","affiliation":[{"name":"Developmental Medicine Department, King Abdullah International Medical Research Center (KAIMRC) King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNGHA)  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salam","family":"Massadeh","sequence":"additional","affiliation":[{"name":"Developmental Medicine Department, King Abdullah International Medical Research Center (KAIMRC) King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNGHA)  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdulrahman","family":"Obaid","sequence":"additional","affiliation":[{"name":"Genetics Division, Department of Pediatrics, King Abdullah International Medical Research Centre (KAIMRC) King Saud bin Abdulaziz University for Health Science, King Abdulaziz Medical City, Ministry of National Guard\u2010Health Affairs (MNGHA)  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amna A.","family":"Kashgari","sequence":"additional","affiliation":[{"name":"King Abdullah Specialized Children's Hospital (KASCH), Ministry of National Guard Health Affairs  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher A.","family":"Walsh","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomics and Howard Hughes Medical Institute Boston Children's Hospital  Boston Massachusetts"},{"name":"Department of Pediatrics Harvard Medical School  Boston Massachusetts"},{"name":"Department of Neurology Harvard Medical School  Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wafaa","family":"Eyaid","sequence":"additional","affiliation":[{"name":"Developmental Medicine Department, King Abdullah International Medical Research Center (KAIMRC) King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNGHA)  Riyadh Saudi Arabia"},{"name":"Genetics Division, Department of Pediatrics, King Abdullah International Medical Research Centre (KAIMRC) King Saud bin Abdulaziz University for Health Science, King Abdulaziz Medical City, Ministry of National Guard\u2010Health Affairs (MNGHA)  Riyadh Saudi Arabia"},{"name":"King Abdullah Specialized Children's Hospital (KASCH), Ministry of National Guard Health Affairs  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,5,17]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2010.01.009"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cub.2014.09.063"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2016.128"},{"issue":"11","key":"e_1_2_10_5_1","first-page":"2074","article-title":"A novel frameshift mutation in abnormal 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