Maternal But Not Paternal Transmission of 15q11-13-Linked
Nondeletion Angelman Syndrome Leads to Phenotypic Expression
J. Wagstaff J, J.H. Knoll, K.A. Glatt, Y.Y. Shugart, A. Sommer, M. Lalande
Nature Genetics 1(4), 291--294 (1992 Jul)
Abstract
Angelman syndrome (AS) may result from either maternally inherited
deletions of chromosome 15q11-13 or from paternal uniparental disomy
for chromosome 15. This is in contrast to Prader-Willi syndrome
(PWS), which is caused by either paternal deletion of this region or
maternal disomy for chromosome 15. However, 40% of AS patients
inherit an apparently intact copy of chromosome 15 from each parent.
We now describe a family in which three sisters have given birth to
four AS offspring who have no evidence of deletion or paternal
disomy. We show that AS in this family is caused by a mutation in
15q11-13 that results in AS when transmitted from mother to child,
but no phenotype when transmitted paternally. These results suggest
that the loci responsible for AS and PWS, although closely linked,
are distinct.
