Monogenic disorders and modifier genes: Is genotype predictive of phenotype?


MARMARA MEDICAL JOURNAL, vol.27, no.2, pp.96-101, 2014 (Journal Indexed in ESCI) identifier identifier

  • Publication Type: Article / Review
  • Volume: 27 Issue: 2
  • Publication Date: 2014
  • Doi Number: 10.5472/mmj.2014.03372.1
  • Title of Journal : MARMARA MEDICAL JOURNAL
  • Page Numbers: pp.96-101


Although monogenic disorders are caused by mutations in one gene, phenotypic variability occurs in patients with the same genotype and disease expressivity changes. Modifier genes are one of the main factors that affect disease severity. In monogenic disorders such as spinal muscular atrophy (SMA), familial Mediterranean fever (FMF) or cystic fibrosis (CF), more than one gene that modifies the course of the disease has been detected. High throughput techniques used in the genomics field will provide functional research on modifier genes, pave the way to establish genotype-to-phenotype correlations and explain the pathophysiology of diseases.