Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: a putative Rho/Rac guanine nucleotide exchange factor

Cell. 1994 Nov 18;79(4):669-78. doi: 10.1016/0092-8674(94)90552-5.


Faciogenital dysplasia (FGDY), also known as Aarskog-Scott syndrome, is an X-linked developmental disorder characterized by disproportionately short stature and by facial, skeletal, and urogenital anomalies. Molecular genetic analyses mapped FGDY to chromosome Xp11.21. To clone this gene, YAC clones spanning an FGDY-specific translocation breakpoint were isolated. An isolated cDNA, FGD1, is disrupted by the breakpoint, and FGD1 mutations cosegregate with the disease. FGD1 codes for a 961 amino acid protein that has strong homology to Rho/Rac guanine nucleotide exchange factors (GEFs), contains a cysteine-rich zinc finger-like region, and, like the RasGEF mSos, contains two potential SH3-binding sites. These results provide compelling evidence that FGD1 is responsible for FGDY and suggest that FGD1 is a Rho/RacGEF involved in mammalian development.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Amino Acid Sequence
  • Base Sequence
  • Cell Line
  • Chromosome Mapping
  • Chromosomes, Artificial, Yeast
  • Cloning, Molecular
  • DNA Mutational Analysis
  • DNA, Complementary / chemistry
  • DNA, Complementary / isolation & purification
  • Face / abnormalities
  • Fetus
  • Guanine Nucleotide Exchange Factors
  • Humans
  • Hybrid Cells
  • Molecular Sequence Data
  • Muscles / abnormalities
  • Oligodeoxyribonucleotides
  • Open Reading Frames
  • Protein Biosynthesis
  • Proteins / genetics*
  • Sequence Homology, Amino Acid
  • Translocation, Genetic*
  • Urogenital Abnormalities
  • X Chromosome*


  • DNA, Complementary
  • Guanine Nucleotide Exchange Factors
  • Oligodeoxyribonucleotides
  • Proteins

Associated data

  • GENBANK/U11690