{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,14]],"date-time":"2026-07-14T15:15:11Z","timestamp":1784042111495,"version":"3.55.0"},"reference-count":6,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,12,18]],"date-time":"2023-12-18T00:00:00Z","timestamp":1702857600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>At 16\u00a0+\u00a06\u2010weeks a fetal scan performed in the second pregnancy of a 42\u00a0y.o. woman identified a right multicystic dysplastic kidney, left renal agenesis, absent urinary bladder, myocardial hypertrophy, increased nuchal fold, a single umbilical artery, and oligohydramnios. Trio exome sequencing analysis detected a novel pathogenic <jats:italic>NONO<\/jats:italic> variant. Postmortem examination after the termination of pregnancy confirmed the ultrasound findings and also revealed pulmonary hypoplasia, retrognathia and low\u2010set ears. The variant was a novel de novo hemizygous pathogenic loss\u2010of\u2010function variant in <jats:italic>NONO<\/jats:italic> [NM_007363.5], associated with a rare X\u2010linked recessive neurodevelopmental disorder, named intellectual developmental disorder, X\u2010linked syndromic 34 (OMIM#300967). The postnatal characteristic features of this disorder include intellectual disability, developmental delay, macrocephaly, structural abnormalities involving the corpus callosum and\/or cerebellum, left ventricular noncompaction and other congenital heart defects. In the prenatal setting, the phenotype has been poorly described, with all described cases presenting with heart defects. This case highlights the need of further clinical delineation to include renal abnormalities in the prenatal phenotype spectrum.<\/jats:p>","DOI":"10.1002\/pd.6500","type":"journal-article","created":{"date-parts":[[2023,12,19]],"date-time":"2023-12-19T05:29:34Z","timestamp":1702963774000},"page":"77-80","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["A novel <i>NONO<\/i> nonsense variant in a fetus with renal abnormalities"],"prefix":"10.1002","volume":"44","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6332-3929","authenticated-orcid":false,"given":"Laia","family":"Rodriguez\u2010Revenga","sequence":"first","affiliation":[{"name":"Biochemistry and Molecular Genetics Department Hospital Clinic of Barcelona and Fundacio de Recerca Cl\u00ednic Barcelona\u2010Institut d\u2019Investigacions Biomediques August Pi i Sunyer (FRCB\u2010IDIBAPS)  Barcelona Spain"},{"name":"CIBER of Rare Diseases (CIBERER) Instituto de Salud Carlos III  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alfons","family":"Nadal","sequence":"additional","affiliation":[{"name":"Pathology Department Biomedical Diagnostic Center Hospital Cl\u00ednic de Barcelona  Barcelona Spain"},{"name":"Department of Basic Clinical Practice Medical School Universitat de Barcelona  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virginia","family":"Borobio","sequence":"additional","affiliation":[{"name":"BCNatal Barcelona Center for Maternal\u2010Fetal and Neonatal Medicine (Hospital Cl\u00ednic and Hospital Sant Joan de Deu) Institut Cl\u00ednic de Ginecologia Obstetricia i Neonatologia Fetal i+D Fetal Medicine Research Center Universitat de Barcelona  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Isabel","family":"\u00c1lvarez\u2010Mora","sequence":"additional","affiliation":[{"name":"Biochemistry and Molecular Genetics Department Hospital Clinic of Barcelona and Fundacio de Recerca Cl\u00ednic Barcelona\u2010Institut d\u2019Investigacions Biomediques August Pi i Sunyer (FRCB\u2010IDIBAPS)  Barcelona Spain"},{"name":"CIBER of Rare Diseases (CIBERER) Instituto de Salud Carlos III  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irene","family":"Madrigal","sequence":"additional","affiliation":[{"name":"Biochemistry and Molecular Genetics Department Hospital Clinic of Barcelona and Fundacio de Recerca Cl\u00ednic Barcelona\u2010Institut d\u2019Investigacions Biomediques August Pi i Sunyer (FRCB\u2010IDIBAPS)  Barcelona Spain"},{"name":"CIBER of Rare Diseases (CIBERER) Instituto de Salud Carlos III  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Montse","family":"Pauta","sequence":"additional","affiliation":[{"name":"BCNatal Barcelona Center for Maternal\u2010Fetal and Neonatal Medicine (Hospital Cl\u00ednic and Hospital Sant Joan de Deu) Institut Cl\u00ednic de Ginecologia Obstetricia i Neonatologia Fetal i+D Fetal Medicine Research Center Universitat de Barcelona  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antoni","family":"Borrell","sequence":"additional","affiliation":[{"name":"BCNatal Barcelona Center for Maternal\u2010Fetal and Neonatal Medicine (Hospital Cl\u00ednic and Hospital Sant Joan de Deu) Institut Cl\u00ednic de Ginecologia Obstetricia i Neonatologia Fetal i+D Fetal Medicine Research Center Universitat de Barcelona  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,12,18]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/nn.4169"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61091"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63044"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2020.593688"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61466"}],"container-title":["Prenatal 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