Novel FGD1 mutation underlying Aarskog-Scott syndrome with myopathy and distal arthropathy

Clin Dysmorphol. 2013 Jan;22(1):13-7. doi: 10.1097/MCD.0b013e32835b6dc4.

Abstract

In this report, we describe a kindred consisting of five affected males presenting with many of the well-recognized features of Aarskog-Scott syndrome. The diagnosis, which was confirmed by the identification of a novel nonsense mutation of FGD1, was associated with the presence of a symmetric distal arthropathy with electromyographic signs of myopathy. These features should be considered in the evaluation of future patients.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Blepharoptosis / genetics
  • Child, Preschool
  • Codon, Nonsense / genetics*
  • DNA Mutational Analysis
  • Dwarfism / diagnosis
  • Dwarfism / genetics*
  • Electromyography
  • Face / abnormalities
  • Genetic Diseases, X-Linked / diagnosis
  • Genetic Diseases, X-Linked / genetics*
  • Genitalia, Male / abnormalities
  • Guanine Nucleotide Exchange Factors / genetics*
  • Hand Deformities, Congenital / diagnosis
  • Hand Deformities, Congenital / genetics*
  • Heart Defects, Congenital / diagnosis
  • Heart Defects, Congenital / genetics*
  • Humans
  • Infant
  • Joint Diseases / genetics*
  • Male
  • Muscular Diseases / genetics*
  • Young Adult

Substances

  • Codon, Nonsense
  • FGD1 protein, human
  • Guanine Nucleotide Exchange Factors

Supplementary concepts

  • Aarskog Syndrome