[Analysis of SEDL gene mutation in a Chinese pedigree with X-linked spondyloepiphyseal dysplasia tarda]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Oct;31(5):604-7. doi: 10.3760/cma.j.issn.1003-9406.2014.01.014.
[Article in Chinese]

Abstract

Objective: To explore the molecular mechanism for a family with hereditary X-linked spondyloepiphysealdysplasia tarda (SEDT).

Methods: For 3 affected males and 2 obligate carrier females from the family, exons 3 to 6 of SEDL gene were amplified with PCR and sequenced.

Results: In the three patients, a deletional mutation (c.267_271delAAGAC) in exon 5 has been identified, which has caused frameshift of the protein product.

Conclusion: c.267_271delAAGAC frameshift mutation of the exon 5 of the SEDL gene probably underlies the disease in this family.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Base Sequence
  • Child
  • China
  • DNA Mutational Analysis
  • Exons / genetics
  • Family Health
  • Female
  • Frameshift Mutation*
  • Genetic Diseases, X-Linked / genetics*
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Male
  • Membrane Transport Proteins / genetics*
  • Osteochondrodysplasias / genetics*
  • Pedigree
  • Sequence Deletion
  • Transcription Factors / genetics*

Substances

  • Membrane Transport Proteins
  • TRAPPC2 protein, human
  • Transcription Factors