A Novel Nonsense Mutation of the Sedlin Gene in a Family with Spondyloepiphyseal Dysplasia Tarda

Abstract

We report a new nonsense mutation in the human sedlin (SEDL) gene in a family with X-linked spondyloepiphyseal dysplasia tarda. A substitution of cytosine for adenine at nucleotide position 329 causing a nonsense mutation (S110X) in exon 6 was identified in the affected patient in the family.