Novel Mutation in the PKHD1 Gene Diagnosed Prenatally in a Fetus with Autosomal Recessive Polycystic Kidney Disease.
Identifieur interne : 004219 ( PubMed/Corpus ); précédent : 004218; suivant : 004220Novel Mutation in the PKHD1 Gene Diagnosed Prenatally in a Fetus with Autosomal Recessive Polycystic Kidney Disease.
Auteurs : Pankaj Thakur ; Paul Speer ; Aleksandar RajkovicSource :
- Case reports in genetics [ 2090-6544 ] ; 2014.
Abstract
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 PKHD1 for the presumptive diagnosis of autosomal recessive polycystic kidney disease (ARPKD). In our patient, a maternally inherited, previously reported pathogenic missense mutation in the PKHD1 gene, c.10444C>T, was identified. A second, previously unreported de novo mutation, c.5909-2delA, was also identified. This mutation affects the canonical splice site and is most likely pathogenic. Our case highlights PKHD1 allelic heterogeneity and the importance of genetic testing in the prenatal setting where many other genetic etiologies can phenocopy ARPKD.
DOI: 10.1155/2014/517952
PubMed: 25114813
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Novel Mutation in the PKHD1 Gene Diagnosed Prenatally in a Fetus with Autosomal Recessive Polycystic Kidney Disease.</title><author><name sortKey="Thakur, Pankaj" sort="Thakur, Pankaj" uniqKey="Thakur P" first="Pankaj" last="Thakur">Pankaj Thakur</name><affiliation><nlm:affiliation>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.</nlm:affiliation></affiliation></author><author><name sortKey="Speer, Paul" sort="Speer, Paul" uniqKey="Speer P" first="Paul" last="Speer">Paul Speer</name><affiliation><nlm:affiliation>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 ; 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.</nlm:affiliation></affiliation></author><author><name sortKey="Rajkovic, Aleksandar" sort="Rajkovic, Aleksandar" uniqKey="Rajkovic A" first="Aleksandar" last="Rajkovic">Aleksandar Rajkovic</name><affiliation><nlm:affiliation>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.</nlm:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2014">2014</date><idno type="RBID">pubmed:25114813</idno><idno type="pmid">25114813</idno><idno type="doi">10.1155/2014/517952</idno><idno type="wicri:Area/PubMed/Corpus">004219</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">004219</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Novel Mutation in the PKHD1 Gene Diagnosed Prenatally in a Fetus with Autosomal Recessive Polycystic Kidney Disease.</title><author><name sortKey="Thakur, Pankaj" sort="Thakur, Pankaj" uniqKey="Thakur P" first="Pankaj" last="Thakur">Pankaj Thakur</name><affiliation><nlm:affiliation>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.</nlm:affiliation></affiliation></author><author><name sortKey="Speer, Paul" sort="Speer, Paul" uniqKey="Speer P" first="Paul" last="Speer">Paul Speer</name><affiliation><nlm:affiliation>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 ; 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.</nlm:affiliation></affiliation></author><author><name sortKey="Rajkovic, Aleksandar" sort="Rajkovic, Aleksandar" uniqKey="Rajkovic A" first="Aleksandar" last="Rajkovic">Aleksandar Rajkovic</name><affiliation><nlm:affiliation>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.</nlm:affiliation></affiliation></author></analytic><series><title level="j">Case reports in genetics</title><idno type="ISSN">2090-6544</idno><imprint><date when="2014" type="published">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">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 PKHD1 for the presumptive diagnosis of autosomal recessive polycystic kidney disease (ARPKD). In our patient, a maternally inherited, previously reported pathogenic missense mutation in the PKHD1 gene, c.10444C>T, was identified. A second, previously unreported de novo mutation, c.5909-2delA, was also identified. This mutation affects the canonical splice site and is most likely pathogenic. Our case highlights PKHD1 allelic heterogeneity and the importance of genetic testing in the prenatal setting where many other genetic etiologies can phenocopy ARPKD.</div></front></TEI><pubmed><MedlineCitation Status="PubMed-not-MEDLINE" Owner="NLM"><PMID Version="1">25114813</PMID><DateCreated><Year>2014</Year><Month>08</Month><Day>12</Day></DateCreated><DateCompleted><Year>2014</Year><Month>08</Month><Day>12</Day></DateCompleted><DateRevised><Year>2017</Year><Month>02</Month><Day>20</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Print">2090-6544</ISSN><JournalIssue CitedMedium="Print"><Volume>2014</Volume><PubDate><Year>2014</Year></PubDate></JournalIssue><Title>Case reports in genetics</Title><ISOAbbreviation>Case Rep Genet</ISOAbbreviation></Journal><ArticleTitle>Novel Mutation in the PKHD1 Gene Diagnosed Prenatally in a Fetus with Autosomal Recessive Polycystic Kidney Disease.</ArticleTitle><Pagination><MedlinePgn>517952</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1155/2014/517952</ELocationID><Abstract><AbstractText>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 PKHD1 for the presumptive diagnosis of autosomal recessive polycystic kidney disease (ARPKD). In our patient, a maternally inherited, previously reported pathogenic missense mutation in the PKHD1 gene, c.10444C>T, was identified. A second, previously unreported de novo mutation, c.5909-2delA, was also identified. This mutation affects the canonical splice site and is most likely pathogenic. Our case highlights PKHD1 allelic heterogeneity and the importance of genetic testing in the prenatal setting where many other genetic etiologies can phenocopy ARPKD.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Thakur</LastName><ForeName>Pankaj</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>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.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Speer</LastName><ForeName>Paul</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>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 ; 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.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Rajkovic</LastName><ForeName>Aleksandar</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>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.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2014</Year><Month>07</Month><Day>13</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Case Rep Genet</MedlineTA><NlmUniqueID>101583302</NlmUniqueID><ISSNLinking>2090-6552</ISSNLinking></MedlineJournalInfo><CommentsCorrectionsList><CommentsCorrections RefType="Cites"><RefSource>Cell Tissue Res. 2006 Dec;326(3):671-85</RefSource><PMID Version="1">16767405</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Am J Hum Genet. 2002 May;70(5):1305-17</RefSource><PMID Version="1">11898128</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Pediatrics. 2003 May;111(5 Pt 1):1072-80</RefSource><PMID Version="1">12728091</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Nat Genet. 2003 Aug;34(4):413-20</RefSource><PMID Version="1">12872123</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Kidney Int. 2005 Mar;67(3):829-48</RefSource><PMID Version="1">15698423</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Mol Genet Metab. 2004 Feb;81(2):75-85</RefSource><PMID 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