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A novel UBE3A truncating mutation in large Tunisian Angelman syndrome pedigree

✍ Scribed by L. Abaied; M. Trabelsi; M. Chaabouni; M. Kharrat; L. Kraoua; R. M'rad; N. Tebib; F. Maazoul; H. Chaabouni


Publisher
John Wiley and Sons
Year
2009
Tongue
English
Weight
161 KB
Volume
152A
Category
Article
ISSN
1552-4825

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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

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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 (∼ ∼70%), paternal uniparental disomy (3-5%) or imprinting center mutations (2-9%), while normal methylation patte