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The family includes 14 affected patients born from four sisters. This mutation was found in all surviving affected individuals and their mothers pointing out the importance of genetic counseling possibility in Angelman syndrome (AS). All patients had severe mental retardation with epilepsy and microcephaly. Minor clinical expression variation was observed among the investigated patients. The severity of clinical expression is related to the detected molecular variation: deletion of 15\u2009bp and insertion of 7\u2009bp. These results are concordant with the gene expression observed in previously reported individuals with AS and truncated UBE3A protein. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33179","type":"journal-article","created":{"date-parts":[[2009,12,23]],"date-time":"2009-12-23T20:44:16Z","timestamp":1261601056000},"page":"141-146","source":"Crossref","is-referenced-by-count":10,"title":["A novel <i>UBE3A<\/i> truncating mutation in large Tunisian Angelman syndrome 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