Fraternal twins with Aarskog-Scott syndrome due to maternal germline mosaicism

Am J Med Genet A. 2011 Aug;155A(8):1987-90. doi: 10.1002/ajmg.a.34094. Epub 2011 Jul 7.

Abstract

Aarskog-Scott syndrome is a rare X-linked recessive disorder with characteristic facial, skeletal, and genital abnormalities. We report on Aarskog-Scott syndrome in male dizygotic twins with an identical de novo mutation in FGD1 that resulted from germline mosaicism in the phenotypically normal mother. This is the first report of inheritance by germline mosaicism for the FGD1 gene.

Publication types

  • Case Reports

MeSH terms

  • Base Sequence
  • Codon, Nonsense
  • DNA Mutational Analysis
  • Diseases in Twins*
  • Dwarfism / diagnosis
  • Dwarfism / genetics*
  • Face / abnormalities
  • Genetic Diseases, X-Linked / diagnosis
  • Genetic Diseases, X-Linked / genetics*
  • Genitalia, Male / abnormalities
  • Germ-Line Mutation*
  • Guanine Nucleotide Exchange Factors / genetics*
  • Hand Deformities, Congenital / diagnosis
  • Hand Deformities, Congenital / genetics*
  • Heart Defects, Congenital / diagnosis
  • Heart Defects, Congenital / genetics*
  • Humans
  • Male
  • Mosaicism*

Substances

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

Supplementary concepts

  • Aarskog Syndrome