Transmission of Angelman syndrome by an affected mother
- PMID: 11258627
- DOI: 10.1097/00125817-199909000-00004
Transmission of Angelman syndrome by an affected mother
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.
Similar articles
-
Distinct phenotypes distinguish the molecular classes of Angelman syndrome.J Med Genet. 2001 Dec;38(12):834-45. doi: 10.1136/jmg.38.12.834. J Med Genet. 2001. PMID: 11748306 Free PMC article.
-
Familial interstitial 570 kbp deletion of the UBE3A gene region causing Angelman syndrome but not Prader-Willi syndrome.Am J Med Genet. 2002 Aug 15;111(3):233-7. doi: 10.1002/ajmg.10498. Am J Med Genet. 2002. PMID: 12210318
-
The E6-Ap ubiquitin-protein ligase (UBE3A) gene is localized within a narrowed Angelman syndrome critical region.Genome Res. 1997 Apr;7(4):368-77. doi: 10.1101/gr.7.4.368. Genome Res. 1997. PMID: 9110176 Free PMC article.
-
Novel intragenic deletions within the UBE3A gene in two unrelated patients with Angelman syndrome: case report and review of the literature.BMC Med Genet. 2017 Nov 21;18(1):137. doi: 10.1186/s12881-017-0500-x. BMC Med Genet. 2017. PMID: 29162042 Free PMC article. Review.
-
Imprinting in Angelman and Prader-Willi syndromes.Curr Opin Genet Dev. 1998 Jun;8(3):334-42. doi: 10.1016/s0959-437x(98)80091-9. Curr Opin Genet Dev. 1998. PMID: 9691003 Review.
Cited by
-
Distinct phenotypes distinguish the molecular classes of Angelman syndrome.J Med Genet. 2001 Dec;38(12):834-45. doi: 10.1136/jmg.38.12.834. J Med Genet. 2001. PMID: 11748306 Free PMC article.
-
Molecular and Clinical Aspects of Angelman Syndrome.Mol Syndromol. 2012 Apr;2(3-5):100-112. doi: 10.1159/000328837. Epub 2011 Jul 28. Mol Syndromol. 2012. PMID: 22670133 Free PMC article.
-
Angelman syndrome: etiology, clinical features, diagnosis, and management of symptoms.Paediatr Drugs. 2003;5(10):647-61. doi: 10.2165/00148581-200305100-00001. Paediatr Drugs. 2003. PMID: 14510623 Review.
Publication types
MeSH terms
Substances
Grants and funding
LinkOut - more resources
Full Text Sources
Medical
Research Materials
