Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy

Edgar A Otto, Gokul Ramaswami, Sabine Janssen, Moumita Chaki, Susan J Allen, Weibin Zhou, Rannar Airik, Toby W Hurd, Amiya K Ghosh, Matthias T Wolf, Bernd Hoppe, Thomas J Neuhaus, Detlef Bockenhauer, David V Milford, Neveen A Soliman, Corinne Antignac, Sophie Saunier, Colin A Johnson, Friedhelm Hildebrandt, GPN Study Group

Research output: Contribution to journalArticlepeer-review

Abstract

Nephronophthisis associated ciliopathies (NPHP-AC) comprise a group of autosomal recessive cystic kidney diseases that includes nephronophthisis (NPHP), Senior-Loken syndrome (SLS), Joubert syndrome (JBTS), and Meckel-Gruber syndrome (MKS). To date, causative mutations in NPHP-AC have been described for 18 different genes, rendering mutation analysis tedious and expensive. To overcome the broad genetic locus heterogeneity, a strategy of DNA pooling with consecutive massively parallel resequencing (MPR) was devised.
Original languageEnglish
Pages (from-to)105-16
Number of pages12
JournalJournal of Medical Genetics
Volume48
Issue number2
DOIs
Publication statusPublished - Feb 2011

Keywords

  • Cilia
  • DNA Mutational Analysis
  • Heteroduplex Analysis
  • Humans
  • Kidney Diseases, Cystic
  • Nucleic Acid Amplification Techniques
  • Polymerase Chain Reaction

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