Faculté de Médecine de Tunis, Laboratoire de Génétique Humaine, Tunis, Tunisia.
Am J Med Genet A. 2010 Jan;152A(1):141-6. doi: 10.1002/ajmg.a.33179.
We identified in a large Tunisian pedigree a novel UBE3A frameshift mutation in exon 16 coding region, and we expect that the resulting UBE3A truncated protein in our patients is non-functional since the mutation implies the catalytic region of the enzyme. 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 bp and insertion of 7 bp. These results are concordant with the gene expression observed in previously reported individuals with AS and truncated UBE3A protein.
我们在一个大型的突尼斯家系中鉴定出一个位于 16 号外显子编码区的新型 UBE3A 移码突变，我们预计我们患者中的这种 UBE3A 截断蛋白是无功能的，因为该突变意味着酶的催化区域。该家系包括 14 名来自 4 位姐妹的患病个体。该突变存在于所有存活的受累个体及其母亲中，这提示 Angelman 综合征（AS）患者中进行遗传咨询的可能性很重要。所有患者均有严重的智力障碍、癫痫和小头畸形。在所研究的患者中观察到轻微的临床表型变异。临床表型的严重程度与检测到的分子变异有关：15bp 的缺失和 7bp 的插入。这些结果与先前报道的 AS 患者和截断 UBE3A 蛋白的基因表达一致。
