title: Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome.
abstract: The Aarskog syndrome or facio-genital dysplasia (FGDY, MIM No. 305400) is an X-linked condition characterized by short stature, macrocephaly, facial, genital and skeletal anomalies. It is caused by mutation of the FGD1 gene mapped to the Xp11.21 region. To date, only one point mutation has been reported in an affected family, consisting of the insertion of an additional guanine residue at nucleotide 2122 of exon 7, which causes premature translational termination. We now report the finding of two novel FGD1 mutations, a missense mutation in a family of Italian origin and a deletion of 3 exons in a sporadic case from Germany. These mutations confirm the role of FGD1 as the gene responsible for the Aarskog syndrome.
authors.affiliation: Center for Molecular Studies, JC Self Research Institute Greenwood Genetic Center, Greenwood, SC 29646, USA. shcwartz@ggc.org
authors.forename: C E
authors.initials: CE
authors.lastname: Schwartz
authors.forename: G
authors.initials: G
authors.lastname: Gillessen-Kaesbach
authors.forename: M
authors.initials: M
authors.lastname: May
authors.forename: M
authors.initials: M
authors.lastname: Cappa
authors.forename: J
authors.initials: J
authors.lastname: Gorski
authors.forename: K
authors.initials: K
authors.lastname: Steindl
authors.forename: G
authors.initials: G
authors.lastname: Neri
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D001483:Base Sequence; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005147:Facial Bones / Q000002:abnormalities*; D005192:Family Health; D005260:Female; D020662:Guanine Nucleotide Exchange Factors; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D011506:Proteins / Q000235:genetics*; D013577:Syndrome; D014564:Urogenital Abnormalities; D014960:X Chromosome / Q000235:genetics
chemical_list: C490796:FGD1 protein, human; D020662:Guanine Nucleotide Exchange Factors; D011506:Proteins; D004247:DNA