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Germline mosaicism of a novel UBE3A mutation in Angelman syndrome

โœ Scribed by Kana Hosoki; Kyoko Takano; Akira Sudo; Soichiro Tanaka; Shinji Saitoh


Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
121 KB
Volume
138A
Category
Article
ISSN
1552-4825

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Angelman syndrome is a neurobehavioral disorder caused by defects of imprinted gene(s) on chromosome 15q11-13. AS-specific DNA methylation is found in patients carrying 3-4 Mb deletions (โˆผ โˆผ70%), paternal uniparental disomy (3-5%) or imprinting center mutations (2-9%), while normal methylation patte

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## Abstract Angelman syndrome (AS) is a genetic disorder caused by a deficiency of __UBE3A__ imprinted gene expression from the maternal chromosome 15. In 10% of AS cases the genetic cause is a mutation affecting the maternal copy of the __UBE3A__ gene. In two large Spanish series of clinically str