Xiao B, Deng F-Y, Xiong G, Wang K, Zhang J, Chen X-D, Liu Y-Z, Deng H-W
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Eur J Neurol. 2005 May;12(5):344-9. doi: 10.1111/j.1468-1331.2004.00989.x.
Three loci for benign familial infantile seizures (BFIS, traditionally named benign familial infantile convulsions) have been mapped to the chromosome regions of 19q12-13.1, 2q24, and 16p12-q12. We characterized the clinical features of a newly discovered Chinese family with BFIS and investigated whether it is linked to these loci. A four-generation Chinese family was investigated and nineteen family members were examined. Fourteen microsatellite markers covering the three BFIS loci on the chromosome regions of 19q12-13.1, 2q24, and 16p12-q12 were genotyped. Linkage analysis was performed. The main clinical features of our patients include onset of afebrile seizures between 3 and 10 months, normal psychomotor development, normal interictal electroencephalogram (EEG), and autosomal dominant inheritance. Magnetic resonance imaging (MRI) changes were found in the proband. Two-point LOD scores are < -2.0 at the recombination rate of 0.0 for all the markers on the 2q24 region. Multipoint LOD scores are < -3.0 for the regions of 19q12-13.1 and 16p12-q12. Linkage analysis showed no evidence that the disease gene of this BFIS family is linked to the chromosome regions previously identified as the critical regions of the disease. Another chromosome region harboring the disease gene may exist in the new Chinese family.
良性家族性婴儿惊厥（BFIS，传统上称为良性家族性婴儿抽搐）的三个基因座已被定位到19q12 - 13.1、2q24和16p12 - q12的染色体区域。我们对一个新发现的患有BFIS的中国家系的临床特征进行了描述，并研究其是否与这些基因座连锁。对一个四代中国家系进行了调查，检查了19名家庭成员。对覆盖19q12 - 13.1、2q24和16p12 - q12染色体区域上三个BFIS基因座的14个微卫星标记进行了基因分型。进行了连锁分析。我们患者的主要临床特征包括3至10个月时出现无热惊厥、精神运动发育正常、发作间期脑电图（EEG）正常以及常染色体显性遗传。先证者发现有磁共振成像（MRI）改变。在2q24区域的所有标记处，重组率为0.0时两点连锁对数得分均＜ -2.0。在19q12 - 13.1和16p12 - q12区域多点连锁对数得分＜ -3.0。连锁分析表明，没有证据显示这个BFIS家系的致病基因与先前确定的该疾病关键区域的染色体区域连锁。这个新的中国家系中可能存在另一个携带致病基因的染色体区域。
