[Genetic diagnosis for a Chinese Han family with hereditary multiple osteochondromas]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Dec;30(6):645-8. doi: 10.3760/cma.j.issn.1003-9406.2013.06.002.
[Article in Chinese]

Abstract

Objective: To identify the genetic cause for a Chinese Han family affected with hereditary multiple osteochondromas.

Methods: Two patients, five unaffected relatives of the family and 100 unrelated healthy controls were collected. The coding sequences and intron/exon boundaries of EXT1 gene were amplified with polymerase chain reaction (PCR) and sequenced.

Results: A heterozygous c.600G>A (p.Trp200X) mutation in exon 1 of the EXT1 gene was detected in the patients. The same mutation was not found in unaffected family members and 100 healthy controls.

Conclusion: The hereditary multiple osteochondromas in the family is caused by a nonsense mutation (p.Trp200X) in the EXT1 gene.

MeSH terms

  • Asian People / genetics*
  • Child
  • Exostoses, Multiple Hereditary / diagnosis*
  • Exostoses, Multiple Hereditary / genetics*
  • Female
  • Heterozygote
  • Humans
  • Male
  • Mutation
  • N-Acetylglucosaminyltransferases / genetics
  • Pedigree

Substances

  • N-Acetylglucosaminyltransferases
  • exostosin-1