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We identified a ~67\u2009kb de novo intragenic deletion on chromosome 2q22.3 in a female individual showing a developmental encephalopathy characterised by epilepsy, severe intellectual disability, speech delay, microcephaly, and thin corpus callosum with facial dysmorphisms. The microdeletion involved exons 5-6 of\n                    <jats:italic>GTDC1<\/jats:italic>\n                    , encoding a putative glycosyltransferase, whose expression is particularly enriched in the nervous system. In a previous study, a balanced de novo translocation encompassing\n                    <jats:italic>GTDC1<\/jats:italic>\n                    was reported in a male child with global developmental delay and delayed speech and language development. Based on these premises, we explored the transcriptomic profile of our proband to evaluate the functional consequences of the novel\n                    <jats:italic>GTDC1<\/jats:italic>\n                    de novo intragenic deletion in relation to the observed neurodevelopmental phenotype. RNA-seq on the proband\u2019s lymphoblastoid cell line (LCL) showed expression changes of glycine\/serine and cytokine\/chemokine signalling pathways, which are related to neurodevelopment and epileptogenesis. Subsequent analysis by ELISA (enzyme-linked immunosorbent assay) and HPLC (high-performance liquid chromatography) revealed increased levels of glycine in the proband\u2019s LCL and serum compared to matched controls. Given that an increased level of glycine has been observed in the plasma samples of individuals with Rett syndrome, a condition sharing epilepsy, microcephaly, and intellectual disability with our proband, we proposed that the\n                    <jats:italic>GTDC1<\/jats:italic>\n                    downregulation is implicated in neurodevelopmental impairment by altering glycine metabolism. Furthermore, our findings expanded the phenotypic spectrum of the novel\n                    <jats:italic>GTDC1<\/jats:italic>\n                    -related condition, including microcephaly and epilepsy among relevant clinical features.\n                  <\/jats:p>","DOI":"10.1038\/s41431-024-01603-0","type":"journal-article","created":{"date-parts":[[2024,4,11]],"date-time":"2024-04-11T10:01:55Z","timestamp":1712829715000},"page":"920-927","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Further evidence supporting the role of GTDC1 in glycine metabolism and neurodevelopmental disorders"],"prefix":"10.1038","volume":"32","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6346-1988","authenticated-orcid":false,"given":"Edoardo","family":"Errichiello","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mauro","family":"Lecca","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3910-6836","authenticated-orcid":false,"given":"Chiara","family":"Vantaggiato","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zoraide","family":"Motta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2563-8209","authenticated-orcid":false,"given":"Nicoletta","family":"Zanotta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudio","family":"Zucca","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sara","family":"Bertuzzo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luciano","family":"Piubelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Loredano","family":"Pollegioni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7121-7712","authenticated-orcid":false,"given":"Maria Clara","family":"Bonaglia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,4,11]]},"reference":[{"key":"1603_CR1","volume":"11","author":"JS Chen","year":"2021","unstructured":"Chen JS, Yu WH, Tsai MC, Hung PL, Tu YF. 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