Novel Mutation in the PKHD1 Gene Diagnosed Prenatally in a Fetus with Autosomal Recessive Polycystic Kidney Disease
Joint Authors
Thakur, Pankaj
Rajkovic, Aleksandar
Speer, Paul
Source
Issue
Vol. 2014, Issue 2014 (31 Dec. 2014), pp.1-6, 6 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2014-07-10
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Abstract 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.
American Psychological Association (APA)
Thakur, Pankaj& Speer, Paul& Rajkovic, Aleksandar. 2014. Novel Mutation in the PKHD1 Gene Diagnosed Prenatally in a Fetus with Autosomal Recessive Polycystic Kidney Disease. Case Reports in Genetics،Vol. 2014, no. 2014, pp.1-6.
https://search.emarefa.net/detail/BIM-478035
Modern Language Association (MLA)
Thakur, Pankaj…[et al.]. Novel Mutation in the PKHD1 Gene Diagnosed Prenatally in a Fetus with Autosomal Recessive Polycystic Kidney Disease. Case Reports in Genetics No. 2014 (2014), pp.1-6.
https://search.emarefa.net/detail/BIM-478035
American Medical Association (AMA)
Thakur, Pankaj& Speer, Paul& Rajkovic, Aleksandar. Novel Mutation in the PKHD1 Gene Diagnosed Prenatally in a Fetus with Autosomal Recessive Polycystic Kidney Disease. Case Reports in Genetics. 2014. Vol. 2014, no. 2014, pp.1-6.
https://search.emarefa.net/detail/BIM-478035
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-478035