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Novel Mutation in the PKHD1 Gene Diagnosed Prenatally in a Fetus with Autosomal Recessive Polycystic Kidney Disease

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Novel Mutation in the PKHD1 Gene Diagnosed Prenatally in a Fetus with Autosomal Recessive Polycystic Kidney Disease

Auteurs : Pankaj Thakur [États-Unis] ; Paul Speer [États-Unis] ; Aleksandar Rajkovic [États-Unis]

Source :

Case Reports in Genetics [ 2090-6544 ] ; 2014.

RBID : PMC:4120792

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.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4120792

DOI: 10.1155/2014/517952
PubMed: 25114813
PubMed Central: 4120792

Affiliations:

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Novel Mutation in the <italic>PKHD1</italic>
 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>
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<author><name sortKey="Speer, Paul" sort="Speer, Paul" uniqKey="Speer P" first="Paul" last="Speer">Paul Speer</name>
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<front><div type="abstract" xml:lang="en"><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 <italic>PKHD1</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 <italic>PKHD1</italic>
 gene, c.10444C>T, was identified. A second, previously unreported <italic>de novo</italic>
 mutation, c.5909-2delA, was also identified. This mutation affects the canonical splice site and is most likely pathogenic. Our case highlights <italic>PKHD1</italic>
 allelic heterogeneity and the importance of genetic testing in the prenatal setting where many other genetic etiologies can phenocopy ARPKD.</p>
</div>
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<pmc article-type="research-article"><pmc-dir>properties open_access</pmc-dir>
  <front><journal-meta><journal-id journal-id-type="nlm-ta">Case Rep Genet</journal-id>
<journal-id journal-id-type="iso-abbrev">Case Rep Genet</journal-id>
<journal-id journal-id-type="publisher-id">CRIG</journal-id>
<journal-title-group><journal-title>Case Reports in Genetics</journal-title>
</journal-title-group>
<issn pub-type="ppub">2090-6544</issn>
<issn pub-type="epub">2090-6552</issn>
<publisher><publisher-name>Hindawi Publishing Corporation</publisher-name>
</publisher>
</journal-meta>
<article-meta><article-id pub-id-type="pmid">25114813</article-id>
<article-id pub-id-type="pmc">4120792</article-id>
<article-id pub-id-type="doi">10.1155/2014/517952</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Case Report</subject>
</subj-group>
</article-categories>
<title-group><article-title>Novel Mutation in the <italic>PKHD1</italic>
 Gene Diagnosed Prenatally in a Fetus with Autosomal Recessive Polycystic Kidney Disease</article-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>Thakur</surname>
<given-names>Pankaj</given-names>
</name>
<xref ref-type="aff" rid="I1"><sup>1</sup>
</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Speer</surname>
<given-names>Paul</given-names>
</name>
<xref ref-type="aff" rid="I1"><sup>1</sup>
</xref>
<xref ref-type="aff" rid="I2"><sup>2</sup>
</xref>
<xref ref-type="corresp" rid="cor1">*</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Rajkovic</surname>
<given-names>Aleksandar</given-names>
</name>
<xref ref-type="aff" rid="I1"><sup>1</sup>
</xref>
</contrib>
</contrib-group>
<aff id="I1"><sup>1</sup>
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</aff>
<aff id="I2"><sup>2</sup>
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</aff>
<author-notes><corresp id="cor1">*Paul Speer: <email>speerpd@mail.magee.edu</email>
</corresp>
<fn fn-type="other"><p>Academic Editor: Mohnish Suri</p>
</fn>
</author-notes>
<pub-date pub-type="ppub"><year>2014</year>
</pub-date>
<pub-date pub-type="epub"><day>13</day>
<month>7</month>
<year>2014</year>
</pub-date>
<volume>2014</volume>
<elocation-id>517952</elocation-id>
<history><date date-type="received"><day>27</day>
<month>3</month>
<year>2014</year>
</date>
<date date-type="rev-recd"><day>11</day>
<month>6</month>
<year>2014</year>
</date>
<date date-type="accepted"><day>25</day>
<month>6</month>
<year>2014</year>
</date>
</history>
<permissions><copyright-statement>Copyright © 2014 Pankaj Thakur et al.</copyright-statement>
<copyright-year>2014</copyright-year>
<license xlink:href="https://creativecommons.org/licenses/by/3.0/"><license-p>This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.</license-p>
</license>
</permissions>
<abstract><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 <italic>PKHD1</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 <italic>PKHD1</italic>
 gene, c.10444C>T, was identified. A second, previously unreported <italic>de novo</italic>
 mutation, c.5909-2delA, was also identified. This mutation affects the canonical splice site and is most likely pathogenic. Our case highlights <italic>PKHD1</italic>
 allelic heterogeneity and the importance of genetic testing in the prenatal setting where many other genetic etiologies can phenocopy ARPKD.</p>
</abstract>
</article-meta>
</front>
<floats-group><fig id="fig1" orientation="portrait" position="float"><label>Figure 1</label>
<caption><p>(a) Coronal images of the fetal kidneys at 19 weeks and 4 days of gestation. The kidneys are enlarged and echogenic. (b) Transverse images of the fetal kidneys at 19 weeks and 4 days of gestation. The amniotic fluid level was normal for gestational age.</p>
</caption>
<graphic xlink:href="CRIG2014-517952.001"></graphic>
</fig>
<fig id="fig2" orientation="portrait" position="float"><label>Figure 2</label>
<caption><p>(a) Longitudinal images of the fetal kidneys at 29 weeks and 1 day of gestation. The kidneys continue to be enlarged and echogenic in appearance. Oligohydramnios was noted at the time of this ultrasound. (b) Transverse images of the fetal kidneys at 29 weeks and 1 day of gestation.</p>
</caption>
<graphic xlink:href="CRIG2014-517952.002"></graphic>
</fig>
<fig id="fig3" orientation="portrait" position="float"><label>Figure 3</label>
<caption><p>(a) Longitudinal image of the fetal right kidney at 35 weeks and 1 day of gestation. Notice the significantly enlarged renal size. (b) Transverse image of the fetal kidneys at 35 weeks and 1 day. Notice how the kidneys essentially occupy the entire fetal abdomen. Anhydramnios was noted at this gestational age.</p>
</caption>
<graphic xlink:href="CRIG2014-517952.003"></graphic>
</fig>
<table-wrap id="tab1" orientation="portrait" position="float"><label>Table 1</label>
<caption><p>Pregnancy and fetal growth data.</p>
</caption>
<table frame="hsides" rules="groups"><thead><tr><th align="left" rowspan="1" colspan="1">Gestational age (based on a LMP) </th>
<th align="left" rowspan="1" colspan="1">Biometric measurements</th>
<th align="center" rowspan="1" colspan="1">Composite gestational age</th>
<th align="center" rowspan="1" colspan="1">Amniotic fluid index</th>
<th align="left" rowspan="1" colspan="1">Fetal kidney measurement</th>
<th align="left" rowspan="1" colspan="1">Comments</th>
</tr>
</thead>
<tbody><tr><td align="left" rowspan="1" colspan="1">7.3 weeks </td>
<td align="left" rowspan="1" colspan="1">Gestational sac: 2.6 cm <break></break>
CRL: 1.1 cm </td>
<td align="center" rowspan="1" colspan="1">NA</td>
<td align="center" rowspan="1" colspan="1">NA</td>
<td align="left" rowspan="1" colspan="1">NA</td>
<td align="left" rowspan="1" colspan="1">Crown rump length is consistent with the patient's gestational age by LMP</td>
</tr>
<tr><td align="center" colspan="6" rowspan="1"><hr></hr>
</td>
</tr>
<tr><td align="left" rowspan="1" colspan="1">19.4 weeks </td>
<td align="left" rowspan="1" colspan="1">BPD: 4.9 cm<break></break>
HC: 17.8 cm<break></break>
AC: 16.1 cm<break></break>
FL: 3.4 cm<break></break>
Tibia: 2.9 cm <break></break>
Humerus: 3.2 cm <break></break>
Ulna: 3.0 cm <break></break>
Radius: 2.7 cm</td>
<td align="center" rowspan="1" colspan="1">20.7  weeks</td>
<td align="center" rowspan="1" colspan="1">14.5 cm (normal)</td>
<td align="left" rowspan="1" colspan="1">Right kidney: 2.3 × 1.3 × 1.4 cm (>90th percentile) <break></break>
Left kidney: 2.2 × 1.7 × 1.7 cm (>97th percentile)</td>
<td align="left" rowspan="1" colspan="1">Bilateral enlarged echogenic fetal kidneys</td>
</tr>
<tr><td align="center" colspan="6" rowspan="1"><hr></hr>
</td>
</tr>
<tr><td align="left" rowspan="1" colspan="1">23.5 weeks </td>
<td align="left" rowspan="1" colspan="1">NA</td>
<td align="center" rowspan="1" colspan="1">NA</td>
<td align="center" rowspan="1" colspan="1">11.5 cm (normal)</td>
<td align="left" rowspan="1" colspan="1">Right kidney: 3.9 × 2.4 × 2.4 cm (>97th percentile) <break></break>
Left kidney: 3.7 × 2.1 × 2.0 cm (>97th percentile)</td>
<td align="left" rowspan="1" colspan="1">(1) Bilateral enlarged and echogenic fetal kidneys<break></break>
(2) No sonographic evidence of dilation of the renal pelvis or hydro ureter</td>
</tr>
<tr><td align="center" colspan="6" rowspan="1"><hr></hr>
</td>
</tr>
<tr><td align="left" rowspan="1" colspan="1">29.1 weeks</td>
<td align="left" rowspan="1" colspan="1">AC: 27.3 cm <break></break>
FL: 6.0 cm <break></break>
Fetal weight: 1788 gms (86th percentile)</td>
<td align="center" rowspan="1" colspan="1">31.3 weeks</td>
<td align="center" rowspan="1" colspan="1">4.6 cm (oligohydramnios)</td>
<td align="left" rowspan="1" colspan="1">Right kidney: 5.8 × 2.9 × 3.7 cm<break></break>
Left kidney: 5.7 × 2.8 × 3.7 cm</td>
<td align="left" rowspan="1" colspan="1">(1) Bilateral enlarged and echogenic fetal kidneys<break></break>
(2) Oligohydramnios</td>
</tr>
<tr><td align="center" colspan="6" rowspan="1"><hr></hr>
</td>
</tr>
<tr><td align="left" rowspan="1" colspan="1">35.1 weeks</td>
<td align="left" rowspan="1" colspan="1">NA</td>
<td align="center" rowspan="1" colspan="1">NA</td>
<td align="center" rowspan="1" colspan="1">0 cm (anhydramnios)</td>
<td align="left" rowspan="1" colspan="1">NA</td>
<td align="left" rowspan="1" colspan="1">(1) Bilateral enlarged and echogenic fetal kidneys essentially filling the entire fetal abdomen<break></break>
(2) Anhydramnios</td>
</tr>
</tbody>
</table>
<table-wrap-foot><fn><p><sup>1</sup>
AC: abdominal circumference.</p>
</fn>
<fn><p><sup>2</sup>
CRL: crown rump length.</p>
</fn>
<fn><p><sup>3</sup>
BPD: biparietal diameter.</p>
</fn>
<fn><p><sup>4</sup>
FL: femur length.</p>
</fn>
<fn><p><sup>5</sup>
HC: head circumference.</p>
</fn>
</table-wrap-foot>
</table-wrap>
</floats-group>
</pmc>
<affiliations><list><country><li>États-Unis</li>
</country>
<region><li>Pennsylvanie</li>
</region>
</list>
<tree><country name="États-Unis"><region name="Pennsylvanie"><name sortKey="Thakur, Pankaj" sort="Thakur, Pankaj" uniqKey="Thakur P" first="Pankaj" last="Thakur">Pankaj Thakur</name>
</region>
<name sortKey="Rajkovic, Aleksandar" sort="Rajkovic, Aleksandar" uniqKey="Rajkovic A" first="Aleksandar" last="Rajkovic">Aleksandar Rajkovic</name>
<name sortKey="Speer, Paul" sort="Speer, Paul" uniqKey="Speer P" first="Paul" last="Speer">Paul Speer</name>
<name sortKey="Speer, Paul" sort="Speer, Paul" uniqKey="Speer P" first="Paul" last="Speer">Paul Speer</name>
</country>
</tree>
</affiliations>
</record>

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Novel Mutation in the PKHD1 Gene Diagnosed Prenatally in a Fetus with Autosomal Recessive Polycystic Kidney Disease

Novel Mutation in the PKHD1 Gene Diagnosed Prenatally in a Fetus with Autosomal Recessive Polycystic Kidney Disease

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