{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,26]],"date-time":"2026-10-26T01:41:00Z","timestamp":1792978860771,"version":"4.5.0"},"reference-count":24,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2025,8,10]],"date-time":"2025-08-10T00:00:00Z","timestamp":1754784000000},"content-version":"vor","delay-in-days":9,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,8,1]],"date-time":"2025-08-01T00:00:00Z","timestamp":1754006400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Intl J of Devlp Neuroscience"],"published-print":{"date-parts":[[2025,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Spastic paraplegia\u201067, caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis, is an autosomal recessive neurodevelopmental disorder. It is characterized by dysmorphic features, spasticity, brain abnormalities, hypotonia, impaired intellectual development and speech difficulties. A 9\u2010month\u2010old girl was admitted to our clinic with a neurodevelopmental disorder, hepatomegaly, occasional vomiting, spasticity and hypotonicity. Whole exome sequencing (WES) was planned in the patient who had microcephaly, dysmorphic facial appearance, short and blunt fingers, a wide mouth, lacking physical sensation, dyskinetic movements, agenesis of the corpus callosum and cerebellar hypoplasia on MRI. In our study, we used whole\u2010exome sequencing, family segregation and bioinformatics to identify a homozygous 3 bp duplication in the GPI remodelling gene\n                    <jats:italic>PGAP1<\/jats:italic>\n                    (c.1226_1229dup p.(Val411Argfs*3) [NM_024989.4]) in a female patient with a neurodevelopmental disorder, encephalopathy and nonspecific autosomal recessive forms of intellectual disability (ARID). At least 26 genes are involved in the biosynthesis and remodelling of GPI junctions. Hypomorphic coding variants in seven of these genes have been reported to cause reduced expression of GPI\u2010associated proteins (GPI\u2010APs) on the cell surface and ARID.\n                    <jats:italic>PGAP1<\/jats:italic>\n                    gene variants are important in understanding GPI biosynthesis defects, which can lead to severe neurodevelopmental disorders like spastic paraplegia\u201067. The identified homozygous variant (c.1226_1229dup) further expands the genetic spectrum of GPI\u2010related disorders and underscores the role of WES in diagnosing rare encephalopathies with dysmorphic features.\n                  <\/jats:p>","DOI":"10.1002\/jdn.70044","type":"journal-article","created":{"date-parts":[[2025,8,11]],"date-time":"2025-08-11T05:40:12Z","timestamp":1754890812000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["<i>PGAP1<\/i>\n                    \u2010Related Encephalopathy in an Infant With Neurodevelopmental Delay: Novel Variant and Review of Literature"],"prefix":"10.1002","volume":"85","author":[{"given":"Savas","family":"Baris","sequence":"first","affiliation":[{"name":"Aydin Hospital Aydin Maternity and Children's Hospital  Aydin Turkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1597-5922","authenticated-orcid":false,"given":"Cuneyd","family":"Yavas","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology and Genetics Biruni University  Istanbul Turkiye"},{"name":"Biruni University Research Center (B@MER), Biruni University  Istanbul 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