{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,6,17]],"date-time":"2022-06-17T23:10:54Z","timestamp":1655507454895},"reference-count":14,"publisher":"Hindawi Limited","license":[{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Genetics"],"published-print":{"date-parts":[[2014]]},"abstract":"<jats:p>We report a 29-year-old gravida 2, para 0100, who presented at 19 weeks and 4 days of gestation for ultrasound to assess fetal anatomy. Routine midtrimester fetal anatomy ultrasound revealed enlarged, hyperechoic fetal kidneys and normal amniotic fluid index. Follow-up ultrasound at 23 weeks and 5 days revealed persistently enlarged, hyperechoic fetal kidneys. Progressive oligohydramnios was not evident until 29 weeks of gestation, with anhydramnios noted by 35 weeks of gestation. Amniocentesis was performed for karyotype and to search for mutations in the<jats:italic>PKHD1<\/jats:italic>for the presumptive diagnosis of autosomal recessive polycystic kidney disease (ARPKD). In our patient, a maternally inherited, previously reported pathogenic missense mutation in the<jats:italic>PKHD1<\/jats:italic>gene, c.10444C&gt;T, was identified. A second, previously unreported<jats:italic>de novo<\/jats:italic>mutation, c.5909-2delA, was also identified. This mutation affects the canonical splice site and is most likely pathogenic. Our case highlights<jats:italic>PKHD1<\/jats:italic>allelic heterogeneity and the importance of genetic testing in the prenatal setting where many other genetic etiologies can phenocopy ARPKD.<\/jats:p>","DOI":"10.1155\/2014\/517952","type":"journal-article","created":{"date-parts":[[2014,7,13]],"date-time":"2014-07-13T21:04:39Z","timestamp":1405285479000},"page":"1-6","source":"Crossref","is-referenced-by-count":1,"title":["Novel Mutation in the<i>PKHD1<\/i>Gene Diagnosed Prenatally in a Fetus with Autosomal Recessive Polycystic Kidney Disease"],"prefix":"10.1155","volume":"2014","author":[{"given":"Pankaj","family":"Thakur","sequence":"first","affiliation":[{"name":"Division of Medical Genetics, Department of Obstetrics, Gynecology and Reproductive Sciences, Magee-Womens Hospital of University of Pittsburgh Medical Center, 300 Halket Street, Pittsburgh, PA 15213, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paul","family":"Speer","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Obstetrics, Gynecology and Reproductive Sciences, Magee-Womens Hospital of University of Pittsburgh Medical Center, 300 Halket Street, Pittsburgh, PA 15213, USA"},{"name":"Divisions of Ultrasound and Medical Genetics, Department of Obstetrics, Gynecology and Reproductive Sciences, Magee-Womens Hospital of University of Pittsburgh Medical Center, 300 Halket Street, Pittsburgh, PA 15213, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aleksandar","family":"Rajkovic","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Obstetrics, Gynecology and Reproductive Sciences, Magee-Womens Hospital of University of Pittsburgh Medical Center, 300 Halket Street, Pittsburgh, PA 15213, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"98","reference":[{"key":"8","doi-asserted-by":"publisher","DOI":"10.1038\/ki.1996.423"},{"key":"2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20029"},{"key":"9","doi-asserted-by":"publisher","DOI":"10.1542\/peds.111.5.1072"},{"key":"21","doi-asserted-by":"publisher","DOI":"10.1038\/ng833"},{"key":"15","doi-asserted-by":"publisher","DOI":"10.1086\/340448"},{"key":"10","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2003.10.010"},{"key":"1","doi-asserted-by":"publisher","DOI":"10.1097\/01.ASN.0000039578.55705.6E"},{"key":"14","doi-asserted-by":"publisher","DOI":"10.1016\/j.gastro.2003.09.001"},{"key":"16","doi-asserted-by":"publisher","DOI":"10.1038\/ng1217"},{"key":"18","doi-asserted-by":"publisher","DOI":"10.1007\/s00441-006-0226-0"},{"key":"11","doi-asserted-by":"publisher","DOI":"10.1111\/j.1447-0756.2011.01594.x"},{"key":"22","doi-asserted-by":"publisher","DOI":"10.1111\/j.1523-1755.2005.00148.x"},{"key":"7","doi-asserted-by":"publisher","DOI":"10.1016\/S1472-6483(10)60569-X"},{"key":"13","doi-asserted-by":"publisher","DOI":"10.1007\/s10815-010-9432-5"}],"container-title":["Case Reports in Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/crig\/2014\/517952.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crig\/2014\/517952.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crig\/2014\/517952.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2016,7,29]],"date-time":"2016-07-29T01:02:26Z","timestamp":1469754146000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.hindawi.com\/journals\/crig\/2014\/517952\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014]]},"references-count":14,"alternative-id":["517952","517952"],"URL":"https:\/\/doi.org\/10.1155\/2014\/517952","relation":{},"ISSN":["2090-6544","2090-6552"],"issn-type":[{"value":"2090-6544","type":"print"},{"value":"2090-6552","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014]]}}}