{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,10]],"date-time":"2026-04-10T07:06:43Z","timestamp":1775804803979,"version":"3.50.1"},"reference-count":11,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2025,9,30]],"date-time":"2025-09-30T00:00:00Z","timestamp":1759190400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,9,30]],"date-time":"2025-09-30T00:00:00Z","timestamp":1759190400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100003009","name":"Science and Technology Development Fund","doi-asserted-by":"publisher","award":["33650"],"award-info":[{"award-number":["33650"]}],"id":[{"id":"10.13039\/501100003009","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2026,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    <jats:italic>MINPP1<\/jats:italic>\n                    \u2010related pontocerebellar hypoplasia (PCH) is a rare neurodevelopmental disorder characterized by microcephaly, profound developmental delay, and a distinct neuroimaging pattern. To date, only 21 patients from 13 unrelated families have been reported. Herein, we describe five patients from four Egyptian families with homozygous\n                    <jats:italic>MINPP1<\/jats:italic>\n                    variants. All patients presented with global developmental delay, microcephaly, hypotonia, nystagmus, severe motor impairment, seizures, and intellectual disability. Interestingly, all patients exhibited dysmorphic facies, characterized by a high forehead, long philtrum, smooth philtrum, thin upper lip vermilion, broad chin, and low\u2010set ears. Additional variable findings were optic atrophy, strabismus, feeding difficulties, and genital anomalies. Brain MRI showed cerebellar and pontine hypoplasia, thin corpus callosum, cortical atrophic changes, white matter signal, enlarged ventricles, and striking basal ganglia hypoplasia. Exome sequencing identified four\n                    <jats:italic>MINPP1<\/jats:italic>\n                    variants, including three novel variants (p.Trp68Ter, p.Trp141Ter, and p.Val434_Gln435dup). All variants are localized within functionally critical domains of the protein and were either absent or extremely rare in public databases. Our study increases the number of affected individuals with\n                    <jats:italic>MINPP1<\/jats:italic>\n                    variants and reinforces the clinical and brain imaging features of the disorder. In addition, the specific facial gestalt noted in our patients along with the basal ganglia changes appear characteristic and might point to the diagnosis of this type of PCH.\n                  <\/jats:p>","DOI":"10.1111\/cge.70085","type":"journal-article","created":{"date-parts":[[2025,9,30]],"date-time":"2025-09-30T12:41:12Z","timestamp":1759236072000},"page":"754-761","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["<scp>\n                      <i>MINPP1<\/i>\n                    <\/scp>\n                    \u2010Related Pontocerebellar Hypoplasia in Five New Patients: Identification of Three Novel Variants and Further Phenotype Delineation"],"prefix":"10.1111","volume":"109","author":[{"given":"Sherif F.","family":"Abdel\u2010Ghafar","sequence":"first","affiliation":[{"name":"Medical Molecular Genetics Department Human Genetics and Genome Research Institute, National Research Centre  Cairo Egypt"},{"name":"Biotechnology and Life Sciences Department, Faculty of Postgraduate Studies for Advanced Sciences (PSAS) Beni\u2010Suef University  Beni\u2010Suef Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amr E.","family":"Ahmed","sequence":"additional","affiliation":[{"name":"Biotechnology and Life Sciences Department, Faculty of Postgraduate Studies for Advanced Sciences (PSAS) Beni\u2010Suef University  Beni\u2010Suef Egypt"},{"name":"Higher Technology Institute of Applied Health Sciences Badr Academy for Technology and Sciences  Badr City Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6890-8731","authenticated-orcid":false,"given":"Eman T.","family":"Mohammed","sequence":"additional","affiliation":[{"name":"Biochemistry Department, Faculty of Veterinary Medicine Beni\u2010Suef University  Beni\u2010Suef Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2893-8802","authenticated-orcid":false,"given":"Ghada M. H.","family":"Abdel\u2010Salam","sequence":"additional","affiliation":[{"name":"Clinical Genetics Department Human Genetics and Genome Research Institute, National Research Centre  Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maha S.","family":"Zaki","sequence":"additional","affiliation":[{"name":"Clinical Genetics Department Human Genetics and Genome Research Institute, National Research Centre  Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohamed S.","family":"Abdel\u2010Hamid","sequence":"additional","affiliation":[{"name":"Medical Molecular Genetics Department Human Genetics and Genome Research Institute, National Research Centre  Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,9,30]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12920-024-01810-0"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0040-1716900"},{"key":"e_1_2_9_4_1","unstructured":"https:\/\/www.omim.org."},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12311-024-01690-1"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-020-19919-y"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-020-00749-x"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/jdn.10231"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms26115213"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2022.104520"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3762"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.21037\/qims.2019.08.12"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.70085","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.70085","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.70085","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,10]],"date-time":"2026-04-10T06:16:20Z","timestamp":1775801780000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.70085"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,9,30]]},"references-count":11,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2026,4]]}},"alternative-id":["10.1111\/cge.70085"],"URL":"https:\/\/doi.org\/10.1111\/cge.70085","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,9,30]]},"assertion":[{"value":"2025-08-11","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-09-22","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-09-30","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}