Maternal but not paternal transmission of 15q11-13-linked nondeletion Angelman syndrome leads to phenotypic expression.
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.
Wagstaff
J
J
Genetics Division, Children's Hospital, Boston, Massachusetts.
Knoll
J H
JH
Glatt
K A
KA
Shugart
Y Y
YY
Sommer
A
A
Lalande
M
M
D017204:Angelman Syndrome / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D002874:Chromosome Mapping; D002884:Chromosomes, Human, Pair 15; D004247:DNA / Q000235:genetics / Q000302:isolation & purification; D005091:Exons; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008214:Lymphocytes / Q000502:physiology; D046911:Macromolecular Substances; D008297:Male; D008969:Molecular Sequence Data; D009838:Oligodeoxyribonucleotides; D010375:Pedigree; D010641:Phenotype; D016133:Polymerase Chain Reaction / Q000379:methods; D011218:Prader-Willi Syndrome / Q000235:genetics; D011963:Receptors, GABA-A / Q000235:genetics*
D046911:Macromolecular Substances; D009838:Oligodeoxyribonucleotides; D011963:Receptors, GABA-A; D004247:DNA