title: First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog-Scott syndrome.
abstract: Mutations within the faciogenital dysplasia 1 (FGD1) gene in individuals with clinical features of Aarskog-Scott syndrome (AAS) include missense mutations and insertions and deletions that result in frameshifts and premature terminations. Whole gene deletion and duplication represent other mutational possibilities not yet reported for FGD1 but known to exist for other genes such as MECP2. We report the first case of a boy with clinical features of AAS with deletion of FGD1 gene identified using an oligonucleotide-based X chromosome-specific microarray after attempts to generate amplicons for all of the FGD1 coding exons failed and BAC microarray analysis showed no abnormality.
authors.affiliation: Department of Pediatrics, University of Michigan Medical School, Ann Arbor, MI 48109-5718, USA. sarahbed@umich.edu
authors.forename: Jirair K
authors.initials: JK
authors.lastname: Bedoyan
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Friez
authors.forename: Barbara
authors.initials: B
authors.lastname: DuPont
authors.forename: Ayesha
authors.initials: A
authors.lastname: Ahmad
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000595:Amino Acid Sequence; D001483:Base Sequence; D041321:Chromosomes, Human, X; D004247:DNA / Q000235:genetics; D005091:Exons; D005145:Face / Q000002:abnormalities*; D040181:Genetic Diseases, X-Linked; D020662:Guanine Nucleotide Exchange Factors / Q000737:chemistry / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D020411:Oligonucleotide Array Sequence Analysis; D017434:Protein Structure, Tertiary; D017422:Sequence Analysis, DNA; D017384:Sequence Deletion; D017386:Sequence Homology, Amino Acid; D013577:Syndrome
chemical_list: C490796:FGD1 protein, human; D020662:Guanine Nucleotide Exchange Factors; D004247:DNA