{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,8]],"date-time":"2026-06-08T14:11:04Z","timestamp":1780927864861,"version":"3.54.1"},"reference-count":10,"publisher":"SAGE Publications","issue":"5","license":[{"start":{"date-parts":[[2021,5,12]],"date-time":"2021-05-12T00:00:00Z","timestamp":1620777600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Ophthalmology"],"published-print":{"date-parts":[[2022,9]]},"abstract":"<jats:sec>\n                    <jats:title>Purpose:<\/jats:title>\n                    <jats:p>\n                      Walker-Warburg syndrome (WWS) is a rare autosomal recessive disorder characterized by congenital muscular dystrophy and severe brain and eye malformations. This study aims to analyze genotype-phenotype correlations in WWS with a novel cytidine diphosphate-l-ribitol pyrophosphorylase A (\n                      <jats:italic>CRPPA<\/jats:italic>\n                      ) mutation in different clinical manifestations.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case description:<\/jats:title>\n                    <jats:p>\n                      We report a girl with a presentation of multiple brain and ocular anomalies. Her ophthalmological evaluation showed a shallow anterior chamber, cortical cataract, iris hypoplasia, persistent hyperplastic primary vitreous in the right eye, punctate cataract, iris hypoplasia, primary congenital glaucoma, and a widespread loss of fundus pigmentation in the left eye. She was hypotonic, and her deep tendon reflexes were absent. Laboratory investigations showed high serum levels of serum creatine kinase. Brain magnetic resonance imaging demonstrated hydrocephalus, agenesis of the corpus callosum, retrocerebellar cyst, cerebellar dysplasia and hypoplasia, cobblestone lissencephaly, and hypoplastic brainstem. Whole exome sequencing revealed a novel homozygous nonsense mutation in the first exon of the\n                      <jats:italic>CRPPA<\/jats:italic>\n                      gene (NM_001101426.4, c.217G&gt;T, p.Glu73Ter).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>\n                      The study findings expand the phenotypic variability of the ocular manifestations in the\n                      <jats:italic>CRPPA<\/jats:italic>\n                      gene-related WWS. Iris hypoplasia can be a part of clinical manifestations of the\n                      <jats:italic>CRPPA<\/jats:italic>\n                      gene-related WWS. The uncovering of the genes associated with ocular features can provide preventative methods, early diagnosis, and improved therapeutic strategies.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/11206721211016306","type":"journal-article","created":{"date-parts":[[2021,5,12]],"date-time":"2021-05-12T06:35:27Z","timestamp":1620801327000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":7,"title":["Analysis of genotype-phenotype correlation in Walker-Warburg syndrome with a novel\n                    <i>CRPPA<\/i>\n                    mutation in different clinical manifestations"],"prefix":"10.1177","volume":"32","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3244-7328","authenticated-orcid":false,"given":"Nurettin","family":"Bayram","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, University of Health Sciences, Kayseri City Training and Research Hospital, Kayseri, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ay\u015fe Ka\u00e7ar","family":"Bayram","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Neurology, University of Health Sciences, Kayseri City Training and Research Hospital, Kayseri, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H\u00fcseyin","family":"Per","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Neurology, School of Medicine, Erciyes University, Kayseri, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hakan","family":"G\u00fcm\u00fc\u015f","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Neurology, School of Medicine, Erciyes University, Kayseri, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cemal","family":"Ozsaygili","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, University of Health Sciences, Kayseri City Training and Research Hospital, Kayseri, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mehmet Said","family":"Do\u011fan","sequence":"additional","affiliation":[{"name":"Department of Pediatric Radiology, School of Medicine, Erciyes University, Kayseri, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahmet Okay","family":"\u00c7a\u011flayan","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, School of Medicine, Dokuz Eylul University, Izmir, Turkey"},{"name":"Departments of Neurosurgery, Neurobiology and Genetics, Yale School of Medicine, New Haven, CT, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2021,5,12]]},"reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000346518.68110.60"},{"key":"e_1_3_3_3_2","unstructured":"Schachter H Vajsar J. Walker-Warburg syndrome. Orphanet database (ORPHA:899) https:\/\/www.orpha.net\/consor\/cgi-bin\/OC_Exp.php?Lng=GB&Expert=899 (2011 accessed 25 March 2021)."},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2013.09.014"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2253"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1321774111"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2005.11.044"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.0322-12.2012"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-018-26855-x"},{"key":"e_1_3_3_10_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2252"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2015.05.004"}],"container-title":["European Journal of Ophthalmology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/11206721211016306","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/11206721211016306","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/11206721211016306","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T19:44:24Z","timestamp":1777405464000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/11206721211016306"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,5,12]]},"references-count":10,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2022,9]]}},"alternative-id":["10.1177\/11206721211016306"],"URL":"https:\/\/doi.org\/10.1177\/11206721211016306","relation":{},"ISSN":["1120-6721","1724-6016"],"issn-type":[{"value":"1120-6721","type":"print"},{"value":"1724-6016","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,5,12]]}}}