Annesi Ferdinanda, Gambardella Antonio, Michelucci Roberto, Bianchi Amedeo, Marini Carla, Canevini Maria Paola, Capovilla Giuseppe, Elia Maurizio, Buti Daniela, Chifari Rosanna, Striano Pasquale, Rocca Francesca E, Castellotti Barbara, Cali Francesco, Labate Angelo, LePiane Emilio, Besana Dante, Sofia Vito, Tabiadon Giulietta, Tortorella Gaetano, Vigliano Piernanda, Vignoli Aglaia, Beccaria Francesca, Annesi Grazia, Striano Salvatore, Aguglia Umberto, Guerrini Renzo, Quattrone Aldo
Institute of Neurological Sciences, National Research Council, Mangone-CosenzaInstitute of Neurology, University Magna Graecia CatanzaroDivision of Neurology, "Bellaria" Hospital, BolognaDivision of Neurology, Ospedale "S. Donato" Arezzo, ArezzoChild Neurology and Psychiatry, IRCCS Stella Maris Foundation, PisaEpilepsy Center, "S. Paolo" Hospital, MilanoEpilepsy Center, Department of Child Neuropsychiatry, "C. Poma" Hospital, MantovaOasi Institute for Research on Mental Retardation and Brain Aging (IRCCS), Troina, EnnaDivision of Child Neurology, Meyer Hospital, FirenzeCenter for Child Epilepsy, Azienda Ospedaliera "Fatebenefratelli e Oftalmico," MilanoEpilepsy Center, Department of Neurological Sciences, "Federico II" University, NapoliLaboratory of Human Genetics, Neurological Institute "C. Besta," MilanoRegional Epilepsy Center, Azienda Ospedaliera Reggio Calabria, Reggio CalabriaDivision of Infantile Neuropsychiatry, Civil Hospital, AlessandriaInstitute of Neurology, University of Catania, CataniaDivision of Neurology, Hospital of Bolzano, BolzanoDivision of Infantile Neuropsychiatry, University of Messina, MessinaDivision of Infantile Neuropsychiatry, Opsedale Martini, Torino, Italy.
Epilepsia. 2007 Sep;48(9):1686-1690. doi: 10.1111/j.1528-1167.2007.01173.x. Epub 2007 Jul 18.
Mutations in the EFHC1 gene have been reported in six juvenile myoclonic epilepsy (JME) families from Mexico and Belize. In this study, we screened 27 unrelated JME Italian families for mutations in the EFHC1 gene.
Twenty-seven families (86 affected individuals, 52 women) with at least two affected members with JME were selected. DNA was isolated from peripheral blood lymphocytes by standard methods and each exon of the EFHC1 gene was amplified and sequenced using intronic primers.
Two heterozygous mutations were identified in three unrelated families. One (R353 W) was a novel missense mutation, while the F229 L mutation was previously described (say which on of the two occurred in two families). Both mutations cosegregated with the disease. In a fourth family, the variant 545G-->A (resulting in the amino acid substitution R182 H) cosegregated with JME.
The results of our study extend the distribution of EFHC1 mutations to the white population and confirm the high level of genetic heterogeneity associated with JME.
在来自墨西哥和伯利兹的6个青少年肌阵挛性癫痫（JME）家族中报告了EFHC1基因突变。在本研究中，我们对27个无关的意大利JME家族进行了EFHC1基因突变筛查。
选择了27个家族（86名患者，52名女性），每个家族至少有两名JME患者。采用标准方法从外周血淋巴细胞中分离DNA，使用内含子引物对EFHC1基因的每个外显子进行扩增和测序。
在3个无关家族中鉴定出2个杂合突变。一个（R353W）是新的错义突变，而F229L突变先前已有报道（说明这两个突变中哪一个在两个家族中出现）。两个突变均与疾病共分离。在第4个家族中，545G→A变异（导致氨基酸替换R182H）与JME共分离。
我们的研究结果将EFHC1突变的分布扩展到白种人群，并证实了与JME相关的高度遗传异质性。
