{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,4]],"date-time":"2026-03-04T16:02:25Z","timestamp":1772640145044,"version":"3.50.1"},"reference-count":15,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2023,5,1]],"date-time":"2023-05-01T00:00:00Z","timestamp":1682899200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["PI22\/01127"],"award-info":[{"award-number":["PI22\/01127"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["PI22\/00272"],"award-info":[{"award-number":["PI22\/00272"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2023,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Glycosylphosphatidylinositol\u2010anchored proteins are involved in multiple physiological processes and the initial stage of their biosynthesis is mediated by\n                    <jats:italic>PIGA, PIGC, PIGH, PIGP, PIGQ, PIGY<\/jats:italic>\n                    , and\n                    <jats:italic>DMP2<\/jats:italic>\n                    genes, which have been linked to a wide spectrum of phenotypes depending on the gene damaged. To date, the\n                    <jats:italic>PIGP<\/jats:italic>\n                    gene has only been related to Developmental and Epileptic Encephalopathy 55 (MIM#617599) in just seven patients. A detailed medical history was performed in two affected siblings with a multiple malformation syndrome. Genetic testing was performed using whole\u2010exome sequencing. One patient presented dysmorphic features, congenital anomalies, hypotonia and epileptic encephalopathy as described in\n                    <jats:italic>PIGA<\/jats:italic>\n                    ,\n                    <jats:italic>PIGQ<\/jats:italic>\n                    and\n                    <jats:italic>PIGY<\/jats:italic>\n                    deficiencies. The other one was a fetus with a severe malformation disorder at 17\u2009weeks of gestation whose pregnancy was interrupted. Both were compound heterozygous of pathogenic variants in\n                    <jats:italic>PIGP<\/jats:italic>\n                    gene: NM_153682.3:c.2\u2009T\u2009&gt;\u2009C(p.?) and a 136 Kb deletion (GRCh37\/hg19 21q22.13(chr21:38329939\u201038\u2009466\u2009066)\u00d71) affecting the entire\n                    <jats:italic>PIGP<\/jats:italic>\n                    gene. Our results extend the clinical phenotype associated to\n                    <jats:italic>PIGP<\/jats:italic>\n                    gene and propose to include it as a novel cause of Multiple Congenital Anomalies\u2010Hypotonia\u2010Seizures syndrome.\n                  <\/jats:p>","DOI":"10.1111\/cge.14340","type":"journal-article","created":{"date-parts":[[2023,5,1]],"date-time":"2023-05-01T04:21:05Z","timestamp":1682914865000},"page":"245-250","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Expanding the phenotype of\n                    <scp>\n                      <i>PIGP<\/i>\n                    <\/scp>\n                    deficiency to multiple congenital anomalies\u2010hypotonia\u2010seizures syndrome"],"prefix":"10.1111","volume":"104","author":[{"given":"Carla","family":"Mart\u00edn\u2010Grau","sequence":"first","affiliation":[{"name":"Genetics Unit, Translational Genetics Research Group Hospital Universitario y Politecnico La Fe, Instituto de Investigaci\u00f3n Sanitaria La Fe (IISLAFE)  Valencia Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carmen","family":"Orellana Alonso","sequence":"additional","affiliation":[{"name":"Genetics Unit, Translational Genetics Research Group Hospital Universitario y Politecnico La Fe, Instituto de Investigaci\u00f3n Sanitaria La Fe (IISLAFE)  Valencia Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M\u00f3nica","family":"Rosell\u00f3 Piera","sequence":"additional","affiliation":[{"name":"Genetics Unit, Translational Genetics Research Group Hospital Universitario y Politecnico La Fe, Instituto de Investigaci\u00f3n Sanitaria La Fe (IISLAFE)  Valencia Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laia","family":"Pedrola Vidal","sequence":"additional","affiliation":[{"name":"Genetics Unit, Translational Genetics Research Group Hospital Universitario y Politecnico La Fe, Instituto de Investigaci\u00f3n Sanitaria La Fe (IISLAFE)  Valencia Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberto","family":"Llorens\u2010Salvador","sequence":"additional","affiliation":[{"name":"Pediatric Imaging Unit Hospital Universitario y Politecnico La Fe de Valencia  Valencia Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ramiro","family":"Quiroga","sequence":"additional","affiliation":[{"name":"Obstetrics and Gynaecology Unit Hospital Universitario y Politecnico La Fe  Valencia Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Purificaci\u00f3n","family":"Mar\u00edn Reina","sequence":"additional","affiliation":[{"name":"Neonatology Unit Hospital Universitario y Politecnico La Fe  Valencia Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juan Salvador","family":"Rubio Moll","sequence":"additional","affiliation":[{"name":"Obstetrics and Gynaecology Unit Hospital Universitario y Politecnico La Fe  Valencia Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosa","family":"G\u00f3mez Portero","sequence":"additional","affiliation":[{"name":"Obstetrics and Gynaecology Unit Hospital Universitario y Politecnico La Fe  Valencia Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francisco","family":"Mart\u00ednez\u2010Castellano","sequence":"additional","affiliation":[{"name":"Genetics Unit, Translational Genetics Research Group Hospital Universitario y Politecnico La Fe, Instituto de Investigaci\u00f3n Sanitaria La Fe (IISLAFE)  Valencia Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,5]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1098\/rsob.190290"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.743"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000387"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.768"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.7680492"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1996.1332"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(19)36842-5"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/emboj\/19.16.4402"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.e05\u201008\u20100743"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddv331"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddx077"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010015\u20100243\u20108"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12278"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2020.10.007"},{"key":"e_1_2_12_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598\u2010021\u201086242\u2010x"}],"container-title":["Clinical 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