Mutation analysis of human LEFTY A and LEFTY B genes in children with Ivemark syndrome

Acta Paediatr Taiwan. 2000 Sep-Oct;41(5):259-62.

Abstract

The search for genes responsible for the abnormal development of the left-right (L/R) asymmetry has been conducted but no definite results have been reported. Recently, two human homologus mouse lefty1 genes, LEFTY A and LEFTY B, were analyzed for mutations in patients with the L/R anomalies. However, only two mutations were found in a survey of 126 patients. We collected genomic DNA from 10 children with Ivemark syndrome, a disease with anomalies in L/R asymmetry. Mutation analysis of LEFTY A and LEFTY B genes using single strand conformation polymorphism and direct sequencing was performed, but no mutations were found. This indicates that the L/R asymmetry anomaly in Ivemark syndrome may not be caused by the mutation of LEFTY A and LEFTY B genes. Other genes responsible for the anomalies of L/R asymmetry should be further investigated.

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Heart Defects, Congenital / genetics*
  • Humans
  • Left-Right Determination Factors
  • Mutation*
  • Polymerase Chain Reaction
  • Spleen / abnormalities*
  • Syndrome
  • Transforming Growth Factor beta / genetics*

Substances

  • LEFTY1 protein, human
  • Left-Right Determination Factors
  • Transforming Growth Factor beta