A novel nonsense mutation of the sedlin gene in a family with spondyloepiphyseal dysplasia tarda

Hum Hered. 2002;54(1):54-6. doi: 10.1159/000066694.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Carrier Proteins / genetics*
  • Codon, Nonsense*
  • Humans
  • Male
  • Membrane Transport Proteins*
  • Osteochondrodysplasias / genetics*
  • Transcription Factors

Substances

  • Carrier Proteins
  • Codon, Nonsense
  • Membrane Transport Proteins
  • TRAPPC2 protein, human
  • Transcription Factors