Paternally inherited deletion of CSH1 in a patient with Silver-Russell syndrome

J Med Genet. 1998 Sep;35(9):784-6. doi: 10.1136/jmg.35.9.784.

Abstract

In a continuing study on the aetiology of Silver-Russell syndrome (SRS), we detected a patient with a heterozygous deletion in the growth hormone gene cluster (17q22-q24). The deletion of the chorionic somatomammotrophin hormone 1 (CSH1) gene was inherited from the patient's father. The patient shows typical symptoms of SRS. Though deletions of CSH1 have been reported without any phenotypic consequences, the heterozygous deletion might be involved in the aetiology of SRS in the case presented here. Apart from other observations in SRS, like maternal uniparental disomy 7, changes in the genomic region 17q22-qter might be responsible for the expression of this syndrome for at least some of the patients, leading to the heterogeneity of SRS.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • Chromosomes, Human, Pair 17 / genetics
  • Dwarfism / genetics*
  • Gene Deletion*
  • Genetic Heterogeneity
  • Genetic Variation
  • Genotype
  • Growth Disorders / genetics
  • Human Growth Hormone / genetics
  • Humans
  • Male
  • Multigene Family / genetics
  • Placental Lactogen / genetics*
  • Syndrome

Substances

  • Human Growth Hormone
  • Placental Lactogen