Clinical characteristics in patients with interstitial deletions of chromosome region 12q21-q22 and identification of a critical region associated with keratosis pilaris

Am J Med Genet A. 2014 Mar;164A(3):796-800. doi: 10.1002/ajmg.a.36356. Epub 2013 Dec 20.

Abstract

We report on a male patient with a submicroscopic 1.21 Mb de novo deletion at 12q21.33-q22 with global developmental delay, characteristic facial features, and keratosis pilaris. Thus far, five other cases with a 12q de novo deletion including this segment have been reported; our case represents the smallest de novo deletion within this chromosome region. High resolution SNP microarray analysis showed a deletion of RefSeq genes BTG1 and LOC256021, and partial deletion of DCN. We propose that BTG1 is a critical gene for the development of the distinctive keratosis pilaris observed in patients with interstitial deletion of 12q21-q22, and suggest candidate genes that may contribute to dysmorphic features and global developmental delay.

Keywords: 12q deletion; CGH-array; facial dysmorphism, keratosis pilaris; intellectual disability.

Publication types

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

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / genetics*
  • Chromosome Banding
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 12*
  • Comparative Genomic Hybridization
  • Darier Disease / diagnosis*
  • Darier Disease / genetics*
  • Eyebrows / abnormalities*
  • Facies
  • Genetic Association Studies*
  • Humans
  • Infant
  • Male
  • Phenotype

Supplementary concepts

  • Burnett Schwartz Berberian syndrome