title: Novel mutations of endothelin-B receptor gene in Pakistani patients with Waardenburg syndrome.
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.
authors.affiliation: Institute of Biochemistry & Biotechnology, University of Veterinary and Animal Sciences, Outfall Road, CivilLines, Lahore, Pakistan.
authors.forename: Raheela
authors.initials: R
authors.lastname: Jabeen
authors.forename: Masroor Ellahi
authors.initials: ME
authors.lastname: Babar
authors.forename: Jamil
authors.initials: J
authors.lastname: Ahmad
authors.forename: Ali Raza
authors.initials: AR
authors.lastname: Awan
mesh_terms: D001483:Base Sequence; D017931:DNA Primers / Q000235:genetics; D006627:Hirschsprung Disease; D006801:Humans; D008969:Molecular Sequence Data; D010154:Pakistan; D017354:Point Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011487:Protein Conformation; D044023:Receptor, Endothelin B / Q000235:genetics*; D017422:Sequence Analysis, DNA; D014849:Waardenburg Syndrome / Q000235:genetics*
chemical_list: D017931:DNA Primers; D044023:Receptor, Endothelin B