Molecular Biology Reports

, Volume 39, Issue 1, pp 785–788

Novel mutations of endothelin-B receptor gene in Pakistani patients with Waardenburg syndrome

  • Raheela Jabeen
  • Masroor Ellahi Babar
  • Jamil Ahmad
  • Ali Raza Awan
Article

Abstract

Mutations in EDNRB gene have been reported to cause Waardenburg-Shah syndrome (WS4) in humans. We investigated 17 patients with WS4 for identification of mutations in EDNRB gene using PCR and direct sequencing technique. Four genomic mutations were detected in four patients; a G to C transversion in codon 335 (S335C) in exon 5 and a transition of T to C in codon (S361L) in exon 5, a transition of A to G in codon 277 (L277L) in exon 4, a non coding transversion of T to A at −30 nucleotide position of exon 5. None of these mutations were found in controls. One of the patients harbored two novel mutations (S335C, S361L) in exon 5 and one in Intronic region (−30exon5 A>G). All of the mutations were homozygous and novel except the mutation observed in exon 4. In this study, we have identified 3 novel mutations in EDNRB gene associated with WS4 in Pakistani patients.

Keywords

EDNRB Endothelin Mutation Waardenburg WS 

Copyright information

© Springer Science+Business Media B.V. 2011

Authors and Affiliations

  • Raheela Jabeen
    • 1
  • Masroor Ellahi Babar
    • 1
  • Jamil Ahmad
    • 2
  • Ali Raza Awan
    • 1
  1. 1.Institute of Biochemistry & BiotechnologyUniversity of Veterinary and Animal SciencesLahorePakistan
  2. 2.University of BalochistanQuettaPakistan

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