Department of Genetic Medicine, Directorate of Genetics and Molecular Pathology, SA Pathology at Women's and Children's Hospital, Adelaide, South Australia, Australia.
Epilepsia. 2011 Oct;52(10):e139-42. doi: 10.1111/j.1528-1167.2011.03188.x. Epub 2011 Jul 21.
Incomplete penetrance and variable phenotypic expression are characteristic of a number of syndromes of familial epilepsy. The purpose of the present investigation is to determine if the 15q13.3 copy number deletion functions as a locus modifying the epilepsy phenotype caused by other known or presumed pathogenic mutations segregating in families with epilepsies. No 15q13.3 microdeletions were detected in 756 affected or definite obligate carrier individuals across 151 families selected on the basis of having multiple members affected with epilepsy and showing a range of seizure types. Therefore, the 15q13.3 microdeletion does not act as a genetic modifier in this cohort of families and is not responsible for any of the genetic heterogeneity hypothesized to account for failure to detect linkage in previous genome-wide scans in five of the larger families included in this study.
一些家族性癫痫综合征的特征是不完全外显和表型表达的可变性。本研究的目的是确定 15q13.3 拷贝数缺失是否作为一个调节其他已知或假定的致病性突变引起的癫痫表型的基因座，这些突变在具有癫痫的多个成员并表现出多种发作类型的 151 个家庭中分离。在 151 个家族中，根据多个成员受癫痫影响且表现出多种发作类型，选择了 756 名受影响或明确的必然携带者个体，未发现 15q13.3 微缺失。因此，15q13.3 微缺失在该家族群体中不作为遗传修饰因子，也不是导致本研究中包含的五个较大家族中先前全基因组扫描未能检测到连锁的遗传异质性的原因之一。
