Transmission of Angelman syndrome by an affected mother

Genet Med. 1999 Sep-Oct;1(6):262-6. doi: 10.1097/00125817-199909000-00004.

Abstract

Purpose: To determine: 1) If a 15q11-13 deletion was transmitted from a female with Angelman syndrome to her fetus, and 2) If the UBE3A gene was functionally imprinted in fetal eye.

Methods: Individuals were genotyped by microsatellite analysis. DNA methylation imprints were assessed by Southern blot analysis and methylation-specific PCR. Expression was analyzed by RT-PCR.

Results: The mother and fetus inherited large deletions of maternal 15q11-13 and demonstrated paternal-only DNA methylation imprints along 15q11-13. UBE3A was paternally expressed in eye tissue from the fetus with Angelman syndrome.

Conclusions: We show that females with Angelman syndrome are fully capable of reproduction and that UBE3A is not imprinted in fetal eye.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Angelman Syndrome / genetics*
  • Blotting, Southern
  • Chromosomes, Human, Pair 15
  • DNA Methylation
  • Eye / embryology*
  • Fathers
  • Female
  • Gene Deletion*
  • Genotype
  • Humans
  • Ligases / genetics
  • Male
  • Microsatellite Repeats
  • Mothers
  • Pedigree
  • Reverse Transcriptase Polymerase Chain Reaction
  • Ubiquitin-Protein Ligases

Substances

  • UBE3A protein, human
  • Ubiquitin-Protein Ligases
  • Ligases