The DiGeorge syndrome minimal critical region contains a goosecoid-like (GSCL) homeobox gene that is expressed early in human development

Am J Hum Genet. 1997 May;60(5):1194-201.


The majority of patients with DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS) have deletions of chromosomal region 22q11.2. The abnormalities observed in these patients include conotruncal cardiac defects, thymic hypoplasia or aplasia, hypocalcemia, and characteristic facial features. To understand the genetic basis of these disorders, we have characterized genes within the region that is most consistently deleted in patients with DGS/VCFS, the minimal DiGeorge critical region (MDGCR). In this report, we present the identification and characterization of a novel gene, GSCL, in the MDGCR, with homology to the homeodomain family of transcription factors. Further, we provide evidence that this gene is expressed in a limited number of adult tissues as well as in early human development. The identification of GSCL required a genomic sequence-based approach because of its restricted expression and high GC content. The early expression, together with the known role of homeobox-containing proteins in development, make GSCL an outstanding candidate for some of the abnormalities seen in DGS/VCFS.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Amino Acid Sequence
  • Base Sequence
  • Chromosomes, Human, Pair 22*
  • Cloning, Molecular
  • DNA Mutational Analysis
  • DNA-Binding Proteins / genetics*
  • DiGeorge Syndrome / genetics*
  • Embryonic and Fetal Development / genetics*
  • Genes, Homeobox*
  • Goosecoid Protein
  • Homeodomain Proteins*
  • Humans
  • Molecular Sequence Data
  • Repressor Proteins*
  • Sequence Analysis, DNA
  • Tissue Distribution
  • Transcription Factors*


  • DNA-Binding Proteins
  • GSC protein, human
  • Goosecoid Protein
  • Homeodomain Proteins
  • Repressor Proteins
  • Transcription Factors

Associated data

  • GENBANK/AC002522