CUGC for Stromme syndrome and CENPF-related disorders

Eur J Hum Genet. 2020 Jan;28(1):132-136. doi: 10.1038/s41431-019-0498-y. Epub 2019 Sep 5.

Abstract

Stromme syndrome.Jejunal atresia with microcephaly and ocular anomalies.Apple peel syndrome with microcephaly and ocular anomalies.Ciliopathy phenotype.Primary microcephaly and intellectual disability.OMIM# of the disease 243605.Name of the analysed genes or DNA/chromosome segments CENPF.OMIM# of the gene(s) 600236.Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for mutations in CENPF genes in diagnostic, prenatal settings, and for risk assessment in relatives.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosomal Proteins, Non-Histone / genetics*
  • Eye Abnormalities / diagnosis
  • Eye Abnormalities / genetics*
  • Genetic Testing / methods*
  • Genetic Testing / standards
  • Humans
  • Intestinal Atresia / diagnosis
  • Intestinal Atresia / genetics*
  • Microcephaly / diagnosis
  • Microcephaly / genetics*
  • Microfilament Proteins / genetics*
  • Mutation
  • Phenotype
  • Sensitivity and Specificity

Substances

  • Chromosomal Proteins, Non-Histone
  • Microfilament Proteins
  • centromere protein F

Supplementary concepts

  • Jejunal Atresia with Microcephaly and Ocular Anomalies