{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T14:30:54Z","timestamp":1775053854503,"version":"3.50.1"},"reference-count":27,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2022,12,30]],"date-time":"2022-12-30T00:00:00Z","timestamp":1672358400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Intl J of Devlp Neuroscience"],"published-print":{"date-parts":[[2023,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Neurodevelopmental disorders (NDDs) are classified as a group of disorders affecting function and development of the brain and having wide clinical variability.<\/jats:p><jats:p>Herein, we describe two affected individuals segregating a recessive NDD. The affected individuals exhibited phenotypes such as global developmental delay (GDD), intellectual disability (ID), microcephaly and speech delay. Whole\u2010exome sequencing (WES) followed by bidirectional Sanger sequencing techniques identified a homozygous nonsense variant (c.466C\u2009&gt;\u2009T; p.Gln156*) in the <jats:italic>PPFIBP1<\/jats:italic> gene (NM_003622.4) that segregated with the disease phenotype. Further, to elucidate the effect of the variant on protein structure, 3D protein modelling was performed for the mutant and normal protein that suggested substantial reduction of the mutant protein.<\/jats:p><jats:p>Our data support the evidence that <jats:italic>PPFIBP1<\/jats:italic> has a pivotal role in neurodevelopment in humans, and loss\u2010of\u2010function variants cause clinically variable neurodevelopmental phenotypes.<\/jats:p>","DOI":"10.1002\/jdn.10247","type":"journal-article","created":{"date-parts":[[2022,12,17]],"date-time":"2022-12-17T05:08:10Z","timestamp":1671253690000},"page":"191-200","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["A novel homozygous truncating variant in <i>PPFIBP1<\/i> further delineates <i>PPFIBP1<\/i>\u2010associated neurodevelopmental disorder"],"prefix":"10.1002","volume":"83","author":[{"given":"Ahmed","family":"Waqas","sequence":"first","affiliation":[{"name":"Department Zoology, Division of Science and Technology University of Education  Lahore Punjab Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Romana","family":"Liaqat","sequence":"additional","affiliation":[{"name":"Institute of Chemical Science Gomal University  Dera Ismail Khan Khyber Pakhtunkhwa Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sidrah","family":"Shaheen","sequence":"additional","affiliation":[{"name":"Department of Higher Education Government Girls degree College No. 1  Mansehra Khyber Pakhtunkhwa Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ali Zaman","family":"Khan","sequence":"additional","affiliation":[{"name":"Department of Surgery Surgical Ward \u2018A\u2019, Khyber Teaching Hospital  Peshawar Khyber Pakhtunkhwa Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"family":"Mujahid","sequence":"additional","affiliation":[{"name":"Center of Animal Nutrition Directorate General of Livestock &amp; Dairy Development  Peshawar Khyber Pakhtunkhwa Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alaa Hamed","family":"Habib","sequence":"additional","affiliation":[{"name":"Department of Physiology, Faculty of Medicine King Abdulaziz University  Jeddah Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Najat","family":"Binothman","sequence":"additional","affiliation":[{"name":"Department of Chemistry, College of Sciences and Arts King Abdulaziz University  Rabigh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Majidah","family":"Aljadani","sequence":"additional","affiliation":[{"name":"Department of Chemistry, College of Sciences and Arts King Abdulaziz University  Rabigh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zamrud","family":"Zehri","sequence":"additional","affiliation":[{"name":"Shaheed Nawab Ghous Bakhsh Raisani Memorial Hospital  Mastung Balochistan Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shabnam","family":"Shaheen","sequence":"additional","affiliation":[{"name":"Department of Higher Education Government Girls Degree College  Lakki Marwat Khyber Pakhtunkhwa Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Afnan","family":"Alkathiri","sequence":"additional","affiliation":[{"name":"Medical Genetics, Laboratory Medicine Department, Faculty of Applied Medical Sciences Albaha University  Albaha Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rubina","family":"Naz","sequence":"additional","affiliation":[{"name":"Institute of Chemical Science Gomal University  Dera Ismail Khan Khyber Pakhtunkhwa Pakistan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7916-7027","authenticated-orcid":false,"given":"Muhammad","family":"Umair","sequence":"additional","affiliation":[{"name":"Department of Life Sciences, School of Science University of Management and Technology  Lahore Punjab Pakistan"},{"name":"Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC) King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH)  Riyadh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Safdar","family":"Abbas","sequence":"additional","affiliation":[{"name":"Department of Biological Science Dartmouth College  Hanover NH USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,12,30]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.50898"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2021.630787"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2022.1047474"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes12040461"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.51059"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.1862-10.2010"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41398-020-00994-0"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-genom-091212-153431"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.3389\/fnmol.2022.877258"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2019.00411"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2021.104283"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2022-108483"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.14051"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-022-00701-9"},{"key":"e_1_2_11_16_1","doi-asserted-by":"crossref","unstructured":"Rosenhahn E. O'Brien T. J. Zaki M. S. Sorge I. Wieczorek D. Rostasy K. Vitobello A. Nambot S. Alkuraya F. S. Hashem M. O. Alhashem A. Tabarki B. Alamri A. S. Al Safar A. H. Bubshait D. K. Alahmady N. F. Gleeson J. G. Abdel\u2010Hamid M. S. Lesko N. \u2026Platzer K.(2022).Bi\u2010allelic loss\u2010of\u2010function variants 1 in PPFIBP1 cause a neurodevelopmental disorder with microcephaly epilepsy and periventricular calcifications. medRxiv preprint.https:\/\/doi.org\/10.1101\/2022.04.04.22273309","DOI":"10.1101\/2022.04.04.22273309"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13229-021-00473-3"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24414"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1042\/BST0351278"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13842"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.3389\/fcell.2021.736960"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ygeno.2021.05.015"},{"key":"e_1_2_11_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/cga.12187"},{"key":"e_1_2_11_24_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2022.878274"},{"key":"e_1_2_11_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molcel.2011.07.021"},{"key":"e_1_2_11_26_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1719012115"},{"key":"e_1_2_11_27_1","doi-asserted-by":"publisher","DOI":"10.3389\/fcell.2021.653381"},{"key":"e_1_2_11_28_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2018.00727"}],"container-title":["International Journal of Developmental Neuroscience"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jdn.10247","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jdn.10247","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jdn.10247","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,22]],"date-time":"2023-08-22T06:08:34Z","timestamp":1692684514000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jdn.10247"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,12,30]]},"references-count":27,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2023,4]]}},"alternative-id":["10.1002\/jdn.10247"],"URL":"https:\/\/doi.org\/10.1002\/jdn.10247","archive":["Portico"],"relation":{},"ISSN":["0736-5748","1873-474X"],"issn-type":[{"value":"0736-5748","type":"print"},{"value":"1873-474X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,12,30]]},"assertion":[{"value":"2022-08-24","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-12-12","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-12-30","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}