{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,20]],"date-time":"2026-05-20T06:31:35Z","timestamp":1779258695422,"version":"3.51.4"},"reference-count":8,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2023,5,9]],"date-time":"2023-05-09T00:00:00Z","timestamp":1683590400000},"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":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2023,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mutations in the <jats:italic>PPIL1<\/jats:italic> gene have been linked to type 14 pontocerebellar hypoplasia (PCH14); however, prenatal clinical characteristics of PCH14 caused by mutations in the <jats:italic>PPIL1<\/jats:italic> gene have not been reported. This study reports the first prenatal case of PCH14 diagnosed by whole\u2010exome sequencing (WES). Two fetuses with severe microcephaly and cerebral dysplasia, along with their parents, underwent WES. The effects of the discovered <jats:italic>PPIL1<\/jats:italic> variants on PPIL1 protein function were investigated using bioinformatics tools. WES revealed two compound heterozygous missense mutations in <jats:italic>PPIL1<\/jats:italic>, c.376C\u2009&gt;\u2009G (p.His126Asp) and c.392G\u2009&gt;\u2009T (p.Arg131Leu), inherited from the mother and father, respectively. The co\u2010segregation of <jats:italic>PPIL1<\/jats:italic> mutations in this family was confirmed using Sanger sequencing, identifying two PCH14\u2010affected fetuses. Bioinformatics analysis revealed that these mutations could disrupt the formation of hydrogen bonds, altering the structural stability of the PPIL1 protein. This study is the first to define the clinical characteristics of PCH14 during pregnancy and reports a novel heterozygous missense variant, expanding the PCH14\u2010related mutational spectrum of <jats:italic>PPIL1<\/jats:italic>.<\/jats:p>","DOI":"10.1002\/ajmg.a.63238","type":"journal-article","created":{"date-parts":[[2023,5,10]],"date-time":"2023-05-10T21:14:34Z","timestamp":1683753274000},"page":"2193-2197","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Report of new variants in <scp><i>PPIL1<\/i><\/scp> underlying type 14 pontocerebellar hypoplasia and their associated phenotypic manifestations in two fetuses"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7787-0229","authenticated-orcid":false,"given":"Yuxin","family":"Zhang","sequence":"first","affiliation":[{"name":"The Central Laboratory for Birth Defects Prevention and Control Ningbo Women and Children's Hospital  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Children's Hospital  Ningbo Zhejiang China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,5,9]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0387-7604(93)90080-r"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature06842"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2020.10.035"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pbio.1000439"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.3390\/biom8040161"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0010013"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M109.087528"}],"container-title":["American Journal of Medical Genetics Part 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