Article

Molecular Biology Reports

, Volume 39, Issue 1, pp 785-788

First online:

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

  • Raheela JabeenAffiliated withInstitute of Biochemistry & Biotechnology, University of Veterinary and Animal Sciences
  • , Masroor Ellahi BabarAffiliated withInstitute of Biochemistry & Biotechnology, University of Veterinary and Animal Sciences
  • , Jamil AhmadAffiliated withUniversity of Balochistan
  • , Ali Raza AwanAffiliated withInstitute of Biochemistry & Biotechnology, University of Veterinary and Animal Sciences Email author 

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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