Clinical variation of Aarskog syndrome in a large family with 2189de1A in the FGD1 gene

ArticleinAmerican Journal of Medical Genetics Part A 140(2):162-5 · January 2006with12 Reads
Impact Factor: 2.16 · DOI: 10.1002/ajmg.a.31033 · Source: PubMed


    The clinical diagnosis of ASS (Aarskog-Scott syndrome or Faciogenital Dysplasia) was made in seven individuals belonging to a large Arabic family, which was supported by molecular studies revealing a 2189delA mutation in exon 15 of the FDG1 gene. The affected individuals in this family demonstrated clinical variability particularly in their cognitive skills, raising the question whether other genetic factors might be involved in the phenotypic evolution of ASS.