Deletion analysis of the imprinting center region in patients with Angelman syndrome and Prader-Willi syndrome by real-time quantitative PCR.
The molecular basis of Angelman syndrome and Prader-Willi syndrome is well established, and genetic testing for these disorders is clinically available. Imprinting abnormalities account for up to 4% of patients with Angelman and Prader-Willi syndromes. Deletions of the imprinting center region are the molecular abnormality observed in a subset of Angelman and Prader-Willi syndrome cases with imprinting defects. Genetic testing of imprinting center deletions in patients with Angelman and Prader-Willi syndrome is not readily available. Such testing is important for the diagnostics of Angelman and Prader-Willi syndrome because it allows for more accurate diagnosis and recurrence risk prediction in families. Here we describe the development, validation, and implementation of a real time quantitative polymerase chain reaction (PCR)-based assay for imprinting center deletion detection in patients with Angelman and Prader-Willi syndrome, which we have incorporated into our genetic testing strategy for these disorders. To date we have tested, on a clinical basis, five patients with either Angelman or Prader-Willi syndrome in whom an imprinting center defect was implicated and found a deletion in one patient that was determined to be familial.
Raca
Gordana
G
Department of Human Genetics, University of Chicago, Chicago, IL 60637, USA.
Buiting
Karin
K
Das
Soma
S
D017204:Angelman Syndrome / Q000235:genetics*; D004247:DNA / Q000032:analysis; D003937:Diagnosis, Differential; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods*; D018392:Genomic Imprinting; D006801:Humans; D016133:Polymerase Chain Reaction; D011218:Prader-Willi Syndrome / Q000235:genetics*; D012680:Sensitivity and Specificity
D004247:DNA