IVD UBE3A/PML

Angelman syndrome (AS) is characterized by severe developmental delay or mental retardation, severe speech impairment, gait ataxia and/or tremulousness of the limbs, and an unique behavior with an inappropriate happy demeanor that includes frequent laughing, smiling, and excitability. In addition, microcephaly and seizures are common. AS is caused by absence of a maternal contribution to the imprinted region on chromosome 15q11-q13 including the UBE3A gene. The AS UBE3A region probe is optimized to detect copy numbers of the UBE3A gene region at 15q11. The PML (promyelocytic leukemia) gene specific FISH probe at 15q24 is included as control probe.

References:
Matsuura et al, 1997, Nat. Genet., 15; 74-77.
Burger et al, 2002, Am. J. Med. Genet., 111; 233-237.