Whole exome sequencing reveals a novel mutation in CUL7 in a patient with an undiagnosed growth disorder

J Pediatr. 2013 Jan;162(1):202-4.e1. doi: 10.1016/j.jpeds.2012.07.055. Epub 2012 Sep 10.

Abstract

We present the case of a 19-year-old man with a growth disorder, which was undefined, despite extensive evaluation. Whole exome sequencing demonstrated a novel homozygous frameshift mutation in CUL7, one of the causative genes of 3-M syndrome. We discuss the utility of exome sequencing in diagnosing rare disorders.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cullin Proteins / genetics*
  • Dwarfism / diagnosis
  • Dwarfism / genetics*
  • Exome / genetics*
  • Frameshift Mutation*
  • Growth Disorders / genetics*
  • Humans
  • Male
  • Muscle Hypotonia / diagnosis
  • Muscle Hypotonia / genetics*
  • Phenotype
  • Sequence Analysis, DNA*
  • Spine / abnormalities
  • Young Adult

Substances

  • CUL7 protein, human
  • Cullin Proteins

Supplementary concepts

  • Miller-McKusick-Malvaux-Syndrome (3M Syndrome)