{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T15:24:25Z","timestamp":1780327465513,"version":"3.54.1"},"reference-count":15,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2022,12,2]],"date-time":"2022-12-02T00:00:00Z","timestamp":1669939200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2023,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Bi\u2010allelic variants affecting one of the four genes encoding the AP4 subunits are responsible for the \u201cAP4 deficiency syndrome.\u201d Core features include hypotonia that progresses to hypertonia and spastic paraplegia, intellectual disability, postnatal microcephaly, epilepsy, and neuroimaging features. Namely,\n                    <jats:italic>AP4M1<\/jats:italic>\n                    (SPG50) is involved in autosomal recessive spastic paraplegia 50 (MIM#612936). We report on three patients with core features from three unrelated consanguineous families originating from the Middle East. Exome sequencing identified the same homozygous nonsense variant: NM_004722.4(\n                    <jats:italic>AP4M1<\/jats:italic>\n                    ):c.1012C&gt;T p.Arg338* (rs146262009). So far, four patients from three other families carrying this homozygous variant have been reported worldwide. We describe their phenotype and compare it to the phenotype of patients with other variants in\n                    <jats:italic>AP4M1.<\/jats:italic>\n                    We construct a shared single\u2010nucleotide polymorphism (SNP) haplotype around\n                    <jats:italic>AP4M1<\/jats:italic>\n                    in four families and suggest a probable founder effect of Arg338*\n                    <jats:italic>AP4M1<\/jats:italic>\n                    variant with a common ancestor most likely of Turkish origin.\n                  <\/jats:p>","DOI":"10.1111\/cge.14264","type":"journal-article","created":{"date-parts":[[2022,11,13]],"date-time":"2022-11-13T13:29:57Z","timestamp":1668346197000},"page":"346-351","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Putative founder effect of Arg338*\n                    <scp>\n                      <i>AP4M1<\/i>\n                    <\/scp>\n                    (\n                    <scp>SPG50<\/scp>\n                    ) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families"],"prefix":"10.1111","volume":"103","author":[{"given":"Aur\u00e9lie","family":"Becker","sequence":"first","affiliation":[{"name":"CHRU de Nancy, Laboratoire de G\u00e9n\u00e9tique, Inserm U1256, Universit\u00e9 de Lorraine  Nancy France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlotte","family":"Felici","sequence":"additional","affiliation":[{"name":"CHRU de Nancy, Laboratoire de G\u00e9n\u00e9tique, Inserm U1256, Universit\u00e9 de Lorraine  Nancy France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"La\u00ebtitia","family":"Lambert","sequence":"additional","affiliation":[{"name":"CHRU de Nancy, P\u00f4le Enfants, Service de G\u00e9n\u00e9tique Clinique  Nancy France"},{"name":"Inserm U1256, Universit\u00e9 de Lorraine  Nancy France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"de Saint Martin","sequence":"additional","affiliation":[{"name":"H\u00f4pital Hautepierre, Centre de r\u00e9f\u00e9rence des \u00e9pilepsies rares  Strasbourg France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie\u2010Th\u00e9r\u00e8se","family":"Abi\u2010Warde","sequence":"additional","affiliation":[{"name":"H\u00f4pital Hautepierre, Centre de r\u00e9f\u00e9rence des \u00e9pilepsies rares  Strasbourg France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elise","family":"Schaefer","sequence":"additional","affiliation":[{"name":"H\u00f4pService de G\u00e9n\u00e9tique m\u00e9dicale, institut de G\u00e9n\u00e9tique m\u00e9dicale d'Alsace, CHU Strasbourg  Strasbourg France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Zix","sequence":"additional","affiliation":[{"name":"H\u00f4pital de Forbach  P\u00e9diatrie 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Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hamid","family":"Galehdari","sequence":"additional","affiliation":[{"name":"Department of Biology, Faculty of Science Shahid Chamran University of Ahvaz  Ahvaz Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mareike","family":"Selig","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University Medical Center of the Johannes Gutenberg University  Mainz Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Can","family":"Ding","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University Medical Center of the Johannes Gutenberg University  Mainz Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Duerinckx","sequence":"additional","affiliation":[{"name":"IRIBHM, Universit\u00e9 Libre de Bruxelles  Brussels 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