{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T14:43:03Z","timestamp":1787496183595,"version":"build-2736575974"},"reference-count":12,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2017,4,25]],"date-time":"2017-04-25T00:00:00Z","timestamp":1493078400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","award":["RC2017"],"award-info":[{"award-number":["RC2017"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2018,2]]},"abstract":"<jats:p>\n                    Kabuki syndrome is a genetically heterogeneous disorder characterized by postnatal growth retardation, skeletal abnormalities, intellectual disability, facial dysmorphisms and a variable range of organ malformations. In ~30% of affected individuals, the underlying genetic defect remains unknown. A small number of inactivating heterozygous\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">HNRNPK<\/jats:styled-content>\n                    <\/jats:italic>\n                    mutations has recently been reported to be associated with a condition partially overlapping or suggestive of Kabuki syndrome. Here, we report on an 11\u2010year\u2010old girl with a complex phenotype in whom the diagnosis of\n                    <jats:styled-content style=\"fixed-case\">KS<\/jats:styled-content>\n                    was suggested but molecular testing for the known causative disease genes was negative. Whole\u2010exome sequencing identified a previously undescribed de novo truncating mutation in\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">HNRNPK<\/jats:styled-content>\n                    <\/jats:italic>\n                    as the molecular defect underlying the trait. Analysis of available records of patients with\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">HNRNPK<\/jats:styled-content>\n                    <\/jats:italic>\n                    haploinsufficiency was performed to delineate the associated clinical phenotype and outline their distinguishing features in comparison with the\n                    <jats:styled-content style=\"fixed-case\">KS<\/jats:styled-content>\n                    clinical spectrum. The clinical profile associated with inactivating\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">HNRNPK<\/jats:styled-content>\n                    <\/jats:italic>\n                    mutations supports the idea that the associated disorder should be considered as a distinct nosologic entity clinically related to\n                    <jats:styled-content style=\"fixed-case\">KS<\/jats:styled-content>\n                    , and that the condition should be considered in differential diagnosis with\n                    <jats:styled-content style=\"fixed-case\">KS<\/jats:styled-content>\n                    , in particular in subjects exhibiting brain malformation (nodular heterotopia), craniosynostosis, and polydactyly.\n                  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Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcello","family":"Niceta","sequence":"additional","affiliation":[{"name":"Genetics and Rare Diseases Research Division Ospedale Pediatrico Bambino Ges\u00f9  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Pantaleoni","sequence":"additional","affiliation":[{"name":"Genetics and Rare Diseases Research Division Ospedale Pediatrico Bambino Ges\u00f9  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simone","family":"Pizzi","sequence":"additional","affiliation":[{"name":"Genetics and Rare Diseases Research Division Ospedale Pediatrico Bambino Ges\u00f9  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Dallapiccola","sequence":"additional","affiliation":[{"name":"Genetics and Rare Diseases Research Division Ospedale Pediatrico Bambino Ges\u00f9  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Tartaglia","sequence":"additional","affiliation":[{"name":"Genetics and Rare Diseases Research Division Ospedale Pediatrico Bambino Ges\u00f9  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Cristina","family":"Digilio","sequence":"additional","affiliation":[{"name":"Genetics and Rare Diseases Research Division Ospedale Pediatrico Bambino Ges\u00f9  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,4,25]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.10020"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.646"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.220"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12363"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI80102"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22837"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12773"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2443.2008.01256.x"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36230"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36797"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.3345\/kjp.2015.58.9.317"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1265"}],"container-title":["Clinical 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