[Whole-Exome Sequencing for monogenic disorders affecting the orthopaedic system]

Clin Calcium. 2016 Apr;26(4):515-23.
[Article in Japanese]

Abstract

Next-generation sequencing technologies enable comprehensive genetic analyses in monogenic and oligonenic diseases. Especially whole-exome sequencing(WES)targeting exonic regions of protein coding genes is mainly used for Mendelian diseases. Here we describe a case of Hand-foot-genital syndrome arising from a HOXA13 mutation[c.1102A>T(p.Ile368Phe)]as one of successful examples in our successful WES analyses.

Publication types

  • English Abstract
  • Review

MeSH terms

  • Animals
  • Bone Diseases / genetics
  • Exome*
  • Homeodomain Proteins / genetics
  • Humans
  • Movement Disorders / genetics*
  • Mutation
  • Orthopedic Procedures / methods*

Substances

  • Homeodomain Proteins
  • homeobox protein HOXA13