{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,15]],"date-time":"2026-01-15T23:31:53Z","timestamp":1768519913249,"version":"3.49.0"},"reference-count":30,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2024,3,28]],"date-time":"2024-03-28T00:00:00Z","timestamp":1711584000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100006606","name":"Natural Science Foundation of Tianjin City","doi-asserted-by":"publisher","award":["21JCZDJC01030"],"award-info":[{"award-number":["21JCZDJC01030"]}],"id":[{"id":"10.13039\/501100006606","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2024,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Phosphoserine aminotransferase deficiency (PSATD) is an autosomal recessive disorder associated with hypertonia, psychomotor retardation, and acquired microcephaly. Patients with PSATD have low concentrations of serine in plasma and cerebrospinal fluid.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We reported a 2\u2010year\u2010old female child with developmental delay, dyskinesia, and microcephaly. LC\u2013MS\/MS was used to detect amino acid concentration in the blood and whole\u2010exome sequencing (WES) was used to identify the variants. PolyPhen\u20102 web server and PyMol were used to predict the pathogenicity and changes in the 3D model molecular structure of protein caused by variants.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>WES demonstrated compound heterozygous variants in <jats:italic>PSAT1<\/jats:italic>, which is associated with PSATD, with a paternal likely pathogenic variant (c.235G&gt;A, Gly79Arg) and a maternal likely pathogenic variant (c.43G&gt;C, Ala15Pro). Reduced serine concentration in LC\u2013MS\/MS further confirmed the diagnosis of PSATD in this patient.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Our findings demonstrate the importance of WES combined with LC\u2013MS\/MS reanalysis in the diagnosis of genetic diseases and expand the <jats:italic>PSAT1<\/jats:italic> variant spectrum in PSATD. Moreover, we summarize all the cases caused by <jats:italic>PSAT1<\/jats:italic> variants in the literature. This case provides a vital reference for the diagnosis of future cases.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2400","type":"journal-article","created":{"date-parts":[[2024,3,28]],"date-time":"2024-03-28T11:29:56Z","timestamp":1711625396000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Phosphoserine aminotransferase deficiency diagnosed by whole\u2010exome sequencing and <scp>LC\u2013MS<\/scp>\/<scp>MS<\/scp> reanalysis: A case report and review of literature"],"prefix":"10.1002","volume":"12","author":[{"given":"Jiaci","family":"Li","sequence":"first","affiliation":[{"name":"Tianjin Children's Hospital (Children's Hospital, Tianjin University)  Tianjin China"},{"name":"Tianjin Pediatric Research Institute  Tianjin China"},{"name":"Tianjin Key Laboratory of Birth Defects for Prevention and Treatment  Tianjin 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