Molecular mechanism of angelman syndrome in two large families involves an imprinting mutation.

doi:10.1086/302232

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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 iden...

Topics

Adolescent
Angelman Syndrome
Child
DNA Methylation
Female
Genomic Imprinting
Humans
Male
Mutation
Pedigree
Polymerase Chain Reaction
Sequence Deletion

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