{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,13]],"date-time":"2026-06-13T04:59:48Z","timestamp":1781326788093,"version":"3.54.1"},"reference-count":57,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2019,10,25]],"date-time":"2019-10-25T00:00:00Z","timestamp":1571961600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002347","name":"Bundesministerium f\u00fcr Bildung und Forschung","doi-asserted-by":"publisher","award":["01GM1520A"],"award-info":[{"award-number":["01GM1520A"]}],"id":[{"id":"10.13039\/501100002347","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002347","name":"Bundesministerium f\u00fcr Bildung und Forschung","doi-asserted-by":"publisher","award":["01GS08160"],"award-info":[{"award-number":["01GS08160"]}],"id":[{"id":"10.13039\/501100002347","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2019,11]]},"abstract":"Abstract<\/jats:title>\n \n Objective<\/jats:title>\n \n 17q12 microdeletions containing\n HNF1B<\/jats:italic>\n and intragenic variants within this gene are associated with variable developmental, endocrine, and renal anomalies, often already noted prenatally as hyperechogenic\/cystic kidneys. Here, we describe prenatal and postnatal phenotypes of seven individuals with\n HNF1B<\/jats:italic>\n aberrations and compare their clinical and genetic data to those of previous studies.\n <\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n \n Prenatal sequencing and postnatal chromosomal microarray analysis were performed in seven individuals with renal and\/or neurodevelopmental phenotypes. We evaluated\n HNF1B<\/jats:italic>\n \u2010related clinical features from 82 studies and reclassified 192 reported intragenic\n HNF1B<\/jats:italic>\n variants.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n In a prenatal case, we identified a novel in\u2010frame deletion p.(Gly239del) within the HNF1B DNA\u2010binding domain, a mutational hot spot as demonstrated by spatial clustering analysis and high computational prediction scores. The six postnatally diagnosed individuals harbored 17q12 microdeletions. Literature screening revealed variable reporting of\n HNF1B\u2010<\/jats:italic>\n associated clinical traits. Overall, both mutation groups showed a high phenotypic heterogeneity. The reclassification of all previously reported intragenic\n HNF1B<\/jats:italic>\n variants provided an up\u2010to\u2010date overview of the mutational spectrum.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n \n We highlight the value of prenatal\n HNF1B<\/jats:italic>\n screening in renal developmental diseases. Standardized clinical reporting and systematic classification of\n HNF1B<\/jats:italic>\n variants are necessary for a more accurate risk quantification of prenatal and postnatal clinical features, improving genetic counseling and prenatal decision making.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1002\/pd.5556","type":"journal-article","created":{"date-parts":[[2019,9,9]],"date-time":"2019-09-09T13:04:03Z","timestamp":1568034243000},"page":"1136-1147","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":28,"title":["Prenatal diagnosis of\n HNF1B<\/i>\n \u2010associated renal cysts: Is there a need to differentiate intragenic variants from 17q12 microdeletion syndrome?"],"prefix":"10.1002","volume":"39","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1993-1134","authenticated-orcid":false,"given":"Georgia","family":"Vasileiou","sequence":"first","affiliation":[{"name":"Institute of Human Genetics 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