{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T18:42:05Z","timestamp":1787164925509,"version":"build-2736575974"},"reference-count":22,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2023,1,2]],"date-time":"2023-01-02T00:00:00Z","timestamp":1672617600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Project of Guangzhou Science and Technology","award":["202102020191"],"award-info":[{"award-number":["202102020191"]}]},{"name":"Project of Guangzhou Science and Technology","award":["202201020604"],"award-info":[{"award-number":["202201020604"]}]},{"name":"Project of Guangzhou Science and Technology","award":["20231A011030"],"award-info":[{"award-number":["20231A011030"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>PPP2R1A-related neurodevelopmental disorder (NDD) is expressed with autosomal dominant inheritance and is typically caused by a pathogenic de novo PPP2R1A mutation. It is characterized by the predominant features of hypotonia, developmental delay, moderate-to-severe intellectual disability, agenesis of corpus callosum (ACC), ventriculomegaly, and dysmorphic features; however, none of these anomalies have been diagnosed prenatally. We report on the prenatal diagnosis of PPP2R1A-related NDD in two fetuses by whole exome sequencing. Fetus 1 had partial ACC and severe lateral ventriculomegaly; the pathogenic heterozygous c.544C &gt; T (p. Arg182Trp) de novo missense variant in PPP2R1A was detected. Fetus 2 had severe enlargement of the lateral and third ventricles and macrocephaly; they showed a heterozygous likely pathogenic mutation in PPP2R1A gene (c.547C &gt; T, p. Arg183Trp). Both variants were de novo. This was the first study to use trio WES to prenatally analyze fetuses with PPP2R1A variants. Prenatal diagnosis will not only expand the fetal phenotype of this rare genetic condition but also allow for an appropriate counseling of prospective parents regarding pregnancy outcomes.<\/jats:p>","DOI":"10.3390\/genes14010126","type":"journal-article","created":{"date-parts":[[2023,1,2]],"date-time":"2023-01-02T04:17:38Z","timestamp":1672633058000},"page":"126","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Prenatal Diagnosis of PPP2R1A-Related Neurodevelopmental Disorders Using Whole Exome Sequencing: Clinical Report and Review of Literature"],"prefix":"10.3390","volume":"14","author":[{"given":"Tingying","family":"Lei","sequence":"first","affiliation":[{"name":"Prenatal Diagnostic Center, Guangzhou Women and Children\u2019s Medical Center, Guangzhou Medical University, Guangzhou 510623, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li","family":"Zhen","sequence":"additional","affiliation":[{"name":"Prenatal Diagnostic Center, Guangzhou Women and Children\u2019s Medical Center, Guangzhou Medical University, Guangzhou 510623, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xin","family":"Yang","sequence":"additional","affiliation":[{"name":"Prenatal Diagnostic Center, Guangzhou Women and Children\u2019s Medical Center, Guangzhou Medical University, Guangzhou 510623, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Min","family":"Pan","sequence":"additional","affiliation":[{"name":"Prenatal Diagnostic Center, Guangzhou Women and Children\u2019s Medical Center, Guangzhou Medical University, Guangzhou 510623, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fang","family":"Fu","sequence":"additional","affiliation":[{"name":"Prenatal Diagnostic Center, Guangzhou Women and Children\u2019s Medical Center, Guangzhou Medical University, Guangzhou 510623, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jin","family":"Han","sequence":"additional","affiliation":[{"name":"Prenatal Diagnostic Center, Guangzhou Women and Children\u2019s Medical Center, Guangzhou Medical University, Guangzhou 510623, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lushan","family":"Li","sequence":"additional","affiliation":[{"name":"Prenatal Diagnostic Center, Guangzhou Women and Children\u2019s Medical Center, Guangzhou Medical University, Guangzhou 510623, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dongzhi","family":"Li","sequence":"additional","affiliation":[{"name":"Prenatal Diagnostic Center, Guangzhou Women and Children\u2019s Medical Center, Guangzhou Medical University, Guangzhou 510623, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Can","family":"Liao","sequence":"additional","affiliation":[{"name":"Prenatal Diagnostic Center, Guangzhou Women and Children\u2019s Medical Center, Guangzhou Medical University, Guangzhou 510623, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,1,2]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1016\/j.canlet.2013.02.036","article-title":"Phosphatase: PP2A structural importance, regulation and its aberrant expression in cancer","volume":"335","author":"Seshacharyulu","year":"2013","journal-title":"Cancer Lett."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"3166","DOI":"10.1021\/bi00465a002","article-title":"\u03b1- and \u03b2-forms of the 65-kDa subunit of protein phosphatase 2A have a similar 39 amino acid repeating structure","volume":"29","author":"Hemmings","year":"1990","journal-title":"Biochemistry"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1038\/nature05351","article-title":"Crystal structure of a protein phosphatase 2A heterotrimeric holoenzyme","volume":"445","author":"Cho","year":"2007","journal-title":"Nature"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"1567","DOI":"10.1042\/BST20201313","article-title":"Protein Phosphatase 2A (PP2A) mutations in brain function, development, and neurologic disease","volume":"49","author":"Verbinnen","year":"2021","journal-title":"Biochem. 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