First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog-Scott syndrome.
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.
Bedoyan
Jirair K
JK
Department of Pediatrics, University of Michigan Medical School, Ann Arbor, MI 48109-5718, USA. sarahbed@umich.edu
Friez
Michael J
MJ
DuPont
Barbara
B
Ahmad
Ayesha
A
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
C490796:FGD1 protein, human; D020662:Guanine Nucleotide Exchange Factors; D004247:DNA