title: Fraternal twins with Aarskog-Scott syndrome due to maternal germline mosaicism.
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.
authors: Department of Medical Genetics, Montreal Children's Hospital, McGill University, Montreal, QC, Canada.
authors: Laura
authors: L
authors: Pilozzi-Edmonds
authors: Thomas A
authors: TA
authors: Maher
authors: Raveen K
authors: RK
authors: Basran
authors: Aubrey
authors: A
authors: Milunsky
authors: Khalid
authors: K
authors: Al-Thihli
authors: Nancy E
authors: NE
authors: Braverman
authors: Ahmed
authors: A
authors: Alfares
mesh_terms: D001483:Base Sequence; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D004200:Diseases in Twins; D004392:Dwarfism / Q000175:diagnosis / Q000235:genetics*; D005145:Face / Q000002:abnormalities; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis / Q000235:genetics*; D005837:Genitalia, Male / Q000002:abnormalities; D018095:Germ-Line Mutation; D020662:Guanine Nucleotide Exchange Factors / Q000235:genetics*; D006228:Hand Deformities, Congenital / Q000175:diagnosis / Q000235:genetics*; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D009030:Mosaicism
chemical_list: D018389:Codon, Nonsense; C490796:FGD1 protein, human; D020662:Guanine Nucleotide Exchange Factors