title: Clinical variation of Aarskog syndrome in a large family with 2189delA in the FGD1 gene.
abstract: 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.
authors.affiliation: The Genetics Institute, Ha'Emek Medical Center, Afula, Israel. stavit_sh@clalit.org.il
authors.forename: Stavit A
authors.initials: SA
authors.lastname: Shalev
authors.forename: Elana
authors.initials: E
authors.lastname: Chervinski
authors.forename: Ehud
authors.initials: E
authors.lastname: Weiner
authors.forename: Galia
authors.initials: G
authors.lastname: Mazor
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Friez
authors.forename: Charles E
authors.initials: CE
authors.lastname: Schwartz
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology / Q000523:psychology; D003072:Cognition Disorders / Q000523:psychology; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005147:Facial Bones / Q000002:abnormalities*; D005192:Family Health; D005260:Female; D005315:Fetal Diseases / Q000235:genetics / Q000473:pathology; D005837:Genitalia, Male / Q000002:abnormalities*; D020662:Guanine Nucleotide Exchange Factors; D006226:Hand Deformities / Q000473:pathology; D006579:Heterozygote; D006801:Humans; D006972:Hypertelorism / Q000473:pathology; D008297:Male; D010375:Pedigree; D010641:Phenotype; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011506:Proteins / Q000235:genetics*; D017384:Sequence Deletion; D012737:Sex Factors; D013577:Syndrome
chemical_list: C490796:FGD1 protein, human; D020662:Guanine Nucleotide Exchange Factors; D011506:Proteins