Article
Molecular mechanism of angelman syndrome in two large families involves an imprinting mutation.
American journal of human genetics - 1 Feb 1999
Ohta T, Buiting K, Kokkonen H, McCandless S, Heeger S, Leisti H, Driscoll D J, Cassidy S B, Horsthemke B, Nicholls R D
Abstract excerpt
Patients with Angelman syndrome (AS) and Prader-Willi syndrome with mutations in the imprinting process have biparental inheritance but uniparental DNA methylation and gene expression throughout band 15q11-q13. In several of these patients, microdeletions upstream of the SNRPN gene have been identified, defining an imprinting center (IC) that has been hypothesized to control the imprint switch process in the...
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